Canonical Allele Identifier: CA4654130
Community Standard Title: NM_001354483.2(CSGALNACT1):c.742A>G (p.Ile248Val)
Gene: CSGALNACT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19458535T>C , CM000670.2:g.19458535T>C GRCh38
NC_000008.10:g.19316046T>C , CM000670.1:g.19316046T>C GRCh37
NC_000008.9:g.19360326T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001354483.2:c.742A>G MANE Select NP_001341412.1:p.Ile248Val
ENST00000692225.2:c.742A>G MANE Select ENSP00000509853.1:p.Ile248Val
NM_001130518.1:c.742A>G NP_001123990.1:p.Ile248Val
NM_001130518.2:c.742A>G NP_001123990.1:p.Ile248Val
NM_001354475.1:c.742A>G NP_001341404.1:p.Ile248Val
NM_001354475.2:c.742A>G NP_001341404.1:p.Ile248Val
NM_001354476.1:c.742A>G NP_001341405.1:p.Ile248Val
NM_001354476.2:c.742A>G NP_001341405.1:p.Ile248Val
NM_001354477.1:c.742A>G NP_001341406.1:p.Ile248Val
NM_001354477.2:c.742A>G NP_001341406.1:p.Ile248Val
NM_001354480.1:c.742A>G NP_001341409.1:p.Ile248Val
NM_001354480.2:c.742A>G NP_001341409.1:p.Ile248Val
NM_001354481.1:c.742A>G NP_001341410.1:p.Ile248Val
NM_001354481.2:c.742A>G NP_001341410.1:p.Ile248Val
NM_001354483.1:c.742A>G NP_001341412.1:p.Ile248Val
NM_001354484.1:c.742A>G NP_001341413.1:p.Ile248Val
NM_001354484.2:c.742A>G NP_001341413.1:p.Ile248Val
NM_001354485.1:c.742A>G NP_001341414.1:p.Ile248Val
NM_001354485.2:c.742A>G NP_001341414.1:p.Ile248Val
NM_001354487.1:c.742A>G NP_001341416.1:p.Ile248Val
NM_001354487.2:c.742A>G NP_001341416.1:p.Ile248Val
NM_001354488.1:c.742A>G NP_001341417.1:p.Ile248Val
NM_001354488.2:c.742A>G NP_001341417.1:p.Ile248Val
NM_001354489.1:c.742A>G NP_001341418.1:p.Ile248Val
NM_001354489.2:c.742A>G NP_001341418.1:p.Ile248Val
NM_001354490.1:c.742A>G NP_001341419.1:p.Ile248Val
NM_001354490.2:c.742A>G NP_001341419.1:p.Ile248Val
NM_001354491.1:c.742A>G NP_001341420.1:p.Ile248Val
NM_001354491.2:c.742A>G NP_001341420.1:p.Ile248Val
NM_001354492.1:c.742A>G NP_001341421.1:p.Ile248Val
NM_001354492.2:c.742A>G NP_001341421.1:p.Ile248Val
NM_001354494.1:c.742A>G NP_001341423.1:p.Ile248Val
NM_001354494.2:c.742A>G NP_001341423.1:p.Ile248Val
NM_001354495.1:c.742A>G NP_001341424.1:p.Ile248Val
NM_001354495.2:c.742A>G NP_001341424.1:p.Ile248Val
NM_001354496.1:c.742A>G NP_001341425.1:p.Ile248Val
NM_001354496.2:c.742A>G NP_001341425.1:p.Ile248Val
NM_001354497.1:c.742A>G NP_001341426.1:p.Ile248Val
NM_001354497.2:c.742A>G NP_001341426.1:p.Ile248Val
NM_001354498.1:c.742A>G NP_001341427.1:p.Ile248Val
NM_001354498.2:c.742A>G NP_001341427.1:p.Ile248Val
NM_001354499.1:c.742A>G NP_001341428.1:p.Ile248Val
NM_001354499.2:c.742A>G NP_001341428.1:p.Ile248Val
NM_018371.4:c.742A>G NP_060841.5:p.Ile248Val
NM_018371.5:c.742A>G NP_060841.5:p.Ile248Val
NR_024040.1:n.1188A>G
NR_024040.2:n.1199A>G
NR_024040.3:n.1199A>G
NR_148897.1:n.1392A>G
NR_148897.2:n.1271A>G
NR_148898.1:n.1313A>G
NR_148898.2:n.1192A>G
NR_148899.1:n.1254A>G
NR_148899.2:n.1225A>G
NR_148900.1:n.1254A>G
NR_148900.2:n.1225A>G
NR_148901.1:n.1687A>G
NR_148901.2:n.1371A>G
NR_148902.1:n.1842A>G
NR_148902.2:n.1526A>G
ENST00000332246.10:c.742A>G ENSP00000330805.6:p.Ile248Val
ENST00000397998.7:c.742A>G ENSP00000381084.3:p.Ile248Val
ENST00000454498.6:c.742A>G ENSP00000411816.2:p.Ile248Val
ENST00000518542.1:n.261A>G
ENST00000519222.5:c.742A>G ENSP00000428216.1:p.Ile248Val
ENST00000522854.5:c.742A>G ENSP00000429809.1:p.Ile248Val
ENST00000692225.1:c.742A>G ENSP00000509853.1:p.Ile248Val
ENST00000695892.1:c.742A>G ENSP00000512242.1:p.Ile248Val
ENST00000695893.1:c.742A>G ENSP00000512243.1:p.Ile248Val
ENST00000695894.1:c.742A>G ENSP00000512244.1:p.Ile248Val
ENST00000695895.1:c.742A>G ENSP00000512245.1:p.Ile248Val
ENST00000695896.1:c.742A>G ENSP00000512246.1:p.Ile248Val
ENST00000695897.1:c.742A>G ENSP00000512247.1:p.Ile248Val
ENST00000695898.1:c.742A>G ENSP00000512248.1:p.Ile248Val
ENST00000695899.1:c.742A>G ENSP00000512249.1:p.Ile248Val
ENST00000695900.1:c.742A>G ENSP00000512250.1:p.Ile248Val
XM_006716358.2:c.742A>G XP_006716421.1:p.Ile248Val
XM_006716359.2:c.742A>G XP_006716422.1:p.Ile248Val
XM_006716360.2:c.742A>G XP_006716423.1:p.Ile248Val
XM_006716360.3:c.742A>G XP_006716423.1:p.Ile248Val
XM_006716361.2:c.742A>G XP_006716424.1:p.Ile248Val
XM_006716362.1:c.742A>G XP_006716425.1:p.Ile248Val
XM_006716363.1:c.742A>G XP_006716426.1:p.Ile248Val
XM_006716364.2:c.742A>G XP_006716427.1:p.Ile248Val
XM_006716364.3:c.742A>G XP_006716427.1:p.Ile248Val
XM_011544577.1:c.742A>G XP_011542879.1:p.Ile248Val
XM_011544578.1:c.742A>G XP_011542880.1:p.Ile248Val
XM_011544578.2:c.742A>G XP_011542880.1:p.Ile248Val
XM_011544579.1:c.742A>G XP_011542881.1:p.Ile248Val
XM_011544579.2:c.742A>G XP_011542881.1:p.Ile248Val
XM_011544580.1:c.742A>G XP_011542882.1:p.Ile248Val
XM_011544581.1:c.742A>G XP_011542883.1:p.Ile248Val
XM_011544582.1:c.742A>G XP_011542884.1:p.Ile248Val
XM_011544583.1:c.742A>G XP_011542885.1:p.Ile248Val
XM_011544584.1:c.742A>G XP_011542886.1:p.Ile248Val
XM_011544585.1:c.-3A>G XP_011542887.1:n.-3A>G
XM_011544585.3:c.-3A>G XP_011542887.1:n.-3A>G
XM_017013623.2:c.742A>G XP_016869112.1:p.Ile248Val
XM_017013624.2:c.742A>G XP_016869113.1:p.Ile248Val
XM_017013625.1:c.742A>G XP_016869114.1:p.Ile248Val
XM_017013627.1:c.742A>G XP_016869116.1:p.Ile248Val
XM_017013628.2:c.742A>G XP_016869117.1:p.Ile248Val
XM_017013629.1:c.742A>G XP_016869118.1:p.Ile248Val
XM_017013638.1:c.742A>G XP_016869127.1:p.Ile248Val
XM_024447190.1:c.742A>G XP_024302958.1:p.Ile248Val
XM_024447191.1:c.742A>G XP_024302959.1:p.Ile248Val
XM_024447192.1:c.742A>G XP_024302960.1:p.Ile248Val
XM_024447193.1:c.742A>G XP_024302961.1:p.Ile248Val
XM_024447194.1:c.742A>G XP_024302962.1:p.Ile248Val
XM_024447195.1:c.-926A>G XP_024302963.1:n.-926A>G
XR_001745560.2:n.1637A>G
XR_949441.1:n.1687A>G