Canonical Allele Identifier: CA4654189
Community Standard Title: NM_001354483.2(CSGALNACT1):c.634+5G>C
Gene: CSGALNACT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19505196C>G , CM000670.2:g.19505196C>G GRCh38
NC_000008.10:g.19362707C>G , CM000670.1:g.19362707C>G GRCh37
NC_000008.9:g.19406987C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001354483.2:c.634+5G>C MANE Select NP_001341412.1:n.634+5G>C
ENST00000692225.2:c.634+5G>C MANE Select ENSP00000509853.1:n.634+5G>C
NM_001130518.1:c.634+5G>C NP_001123990.1:n.634+5G>C
NM_001130518.2:c.634+5G>C NP_001123990.1:n.634+5G>C
NM_001354475.1:c.634+5G>C NP_001341404.1:n.634+5G>C
NM_001354475.2:c.634+5G>C NP_001341404.1:n.634+5G>C
NM_001354476.1:c.634+5G>C NP_001341405.1:n.634+5G>C
NM_001354476.2:c.634+5G>C NP_001341405.1:n.634+5G>C
NM_001354477.1:c.634+5G>C NP_001341406.1:n.634+5G>C
NM_001354477.2:c.634+5G>C NP_001341406.1:n.634+5G>C
NM_001354480.1:c.634+5G>C NP_001341409.1:n.634+5G>C
NM_001354480.2:c.634+5G>C NP_001341409.1:n.634+5G>C
NM_001354481.1:c.634+5G>C NP_001341410.1:n.634+5G>C
NM_001354481.2:c.634+5G>C NP_001341410.1:n.634+5G>C
NM_001354483.1:c.634+5G>C NP_001341412.1:n.634+5G>C
NM_001354484.1:c.634+5G>C NP_001341413.1:n.634+5G>C
NM_001354484.2:c.634+5G>C NP_001341413.1:n.634+5G>C
NM_001354485.1:c.634+5G>C NP_001341414.1:n.634+5G>C
NM_001354485.2:c.634+5G>C NP_001341414.1:n.634+5G>C
NM_001354487.1:c.634+5G>C NP_001341416.1:n.634+5G>C
NM_001354487.2:c.634+5G>C NP_001341416.1:n.634+5G>C
NM_001354488.1:c.634+5G>C NP_001341417.1:n.634+5G>C
NM_001354488.2:c.634+5G>C NP_001341417.1:n.634+5G>C
NM_001354489.1:c.634+5G>C NP_001341418.1:n.634+5G>C
NM_001354489.2:c.634+5G>C NP_001341418.1:n.634+5G>C
NM_001354490.1:c.634+5G>C NP_001341419.1:n.634+5G>C
NM_001354490.2:c.634+5G>C NP_001341419.1:n.634+5G>C
NM_001354491.1:c.634+5G>C NP_001341420.1:n.634+5G>C
NM_001354491.2:c.634+5G>C NP_001341420.1:n.634+5G>C
NM_001354492.1:c.634+5G>C NP_001341421.1:n.634+5G>C
NM_001354492.2:c.634+5G>C NP_001341421.1:n.634+5G>C
NM_001354494.1:c.634+5G>C NP_001341423.1:n.634+5G>C
NM_001354494.2:c.634+5G>C NP_001341423.1:n.634+5G>C
NM_001354495.1:c.634+5G>C NP_001341424.1:n.634+5G>C
NM_001354495.2:c.634+5G>C NP_001341424.1:n.634+5G>C
NM_001354496.1:c.634+5G>C NP_001341425.1:n.634+5G>C
NM_001354496.2:c.634+5G>C NP_001341425.1:n.634+5G>C
NM_001354497.1:c.634+5G>C NP_001341426.1:n.634+5G>C
NM_001354497.2:c.634+5G>C NP_001341426.1:n.634+5G>C
NM_001354498.1:c.634+5G>C NP_001341427.1:n.634+5G>C
NM_001354498.2:c.634+5G>C NP_001341427.1:n.634+5G>C
NM_001354499.1:c.634+5G>C NP_001341428.1:n.634+5G>C
NM_001354499.2:c.634+5G>C NP_001341428.1:n.634+5G>C
NM_018371.4:c.634+5G>C NP_060841.5:n.634+5G>C
NM_018371.5:c.634+5G>C NP_060841.5:n.634+5G>C
NR_024040.1:n.1080+5G>C
NR_024040.2:n.1091+5G>C
NR_024040.3:n.1091+5G>C
NR_148897.1:n.1205+5G>C
NR_148897.2:n.1084+5G>C
NR_148898.1:n.1205+5G>C
NR_148898.2:n.1084+5G>C
NR_148899.1:n.1146+5G>C
NR_148899.2:n.1117+5G>C
NR_148900.1:n.1146+5G>C
NR_148900.2:n.1117+5G>C
NR_148901.1:n.1579+5G>C
NR_148901.2:n.1263+5G>C
NR_148902.1:n.1734+5G>C
NR_148902.2:n.1418+5G>C
ENST00000332246.10:c.634+5G>C ENSP00000330805.6:n.634+5G>C
ENST00000397998.7:c.634+5G>C ENSP00000381084.3:n.634+5G>C
ENST00000454498.6:c.634+5G>C ENSP00000411816.2:n.634+5G>C
ENST00000519222.5:c.634+5G>C ENSP00000428216.1:n.634+5G>C
ENST00000522854.5:c.634+5G>C ENSP00000429809.1:n.634+5G>C
ENST00000692225.1:c.634+5G>C ENSP00000509853.1:n.634+5G>C
ENST00000695892.1:c.634+5G>C ENSP00000512242.1:n.634+5G>C
ENST00000695893.1:c.634+5G>C ENSP00000512243.1:n.634+5G>C
ENST00000695894.1:c.634+5G>C ENSP00000512244.1:n.634+5G>C
ENST00000695895.1:c.634+5G>C ENSP00000512245.1:n.634+5G>C
ENST00000695896.1:c.634+5G>C ENSP00000512246.1:n.634+5G>C
ENST00000695897.1:c.634+5G>C ENSP00000512247.1:n.634+5G>C
ENST00000695898.1:c.634+5G>C ENSP00000512248.1:n.634+5G>C
ENST00000695899.1:c.634+5G>C ENSP00000512249.1:n.634+5G>C
ENST00000695900.1:c.634+5G>C ENSP00000512250.1:n.634+5G>C
XM_006716358.2:c.634+5G>C XP_006716421.1:n.634+5G>C
XM_006716359.2:c.634+5G>C XP_006716422.1:n.634+5G>C
XM_006716360.2:c.634+5G>C XP_006716423.1:n.634+5G>C
XM_006716360.3:c.634+5G>C XP_006716423.1:n.634+5G>C
XM_006716361.2:c.634+5G>C XP_006716424.1:n.634+5G>C
XM_006716362.1:c.634+5G>C XP_006716425.1:n.634+5G>C
XM_006716363.1:c.634+5G>C XP_006716426.1:n.634+5G>C
XM_006716364.2:c.634+5G>C XP_006716427.1:n.634+5G>C
XM_006716364.3:c.634+5G>C XP_006716427.1:n.634+5G>C
XM_011544577.1:c.634+5G>C XP_011542879.1:n.634+5G>C
XM_011544578.1:c.634+5G>C XP_011542880.1:n.634+5G>C
XM_011544578.2:c.634+5G>C XP_011542880.1:n.634+5G>C
XM_011544579.1:c.634+5G>C XP_011542881.1:n.634+5G>C
XM_011544579.2:c.634+5G>C XP_011542881.1:n.634+5G>C
XM_011544580.1:c.634+5G>C XP_011542882.1:n.634+5G>C
XM_011544581.1:c.634+5G>C XP_011542883.1:n.634+5G>C
XM_011544582.1:c.634+5G>C XP_011542884.1:n.634+5G>C
XM_011544583.1:c.634+5G>C XP_011542885.1:n.634+5G>C
XM_011544584.1:c.634+5G>C XP_011542886.1:n.634+5G>C
XM_017013623.2:c.634+5G>C XP_016869112.1:n.634+5G>C
XM_017013624.2:c.634+5G>C XP_016869113.1:n.634+5G>C
XM_017013625.1:c.634+5G>C XP_016869114.1:n.634+5G>C
XM_017013627.1:c.634+5G>C XP_016869116.1:n.634+5G>C
XM_017013628.2:c.634+5G>C XP_016869117.1:n.634+5G>C
XM_017013629.1:c.634+5G>C XP_016869118.1:n.634+5G>C
XM_017013638.1:c.634+5G>C XP_016869127.1:n.634+5G>C
XM_024447190.1:c.634+5G>C XP_024302958.1:n.634+5G>C
XM_024447191.1:c.634+5G>C XP_024302959.1:n.634+5G>C
XM_024447192.1:c.634+5G>C XP_024302960.1:n.634+5G>C
XM_024447193.1:c.634+5G>C XP_024302961.1:n.634+5G>C
XM_024447194.1:c.634+5G>C XP_024302962.1:n.634+5G>C
XM_024447195.1:c.-1113+5G>C XP_024302963.1:n.-1113+5G>C
XR_001745560.2:n.1529+5G>C
XR_949441.1:n.1579+5G>C