Canonical Allele Identifier: CA173615485
Gene: CSGALNACT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19682127C>T , CM000670.2:g.19682127C>T GRCh38
NC_000008.10:g.19539638C>T , CM000670.1:g.19539638C>T GRCh37
NC_000008.9:g.19583918C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000692225.2:c.-392+75059G>A MANE Select ENSP00000509853.1:n.-392+75059G>A
ENST00000695892.1:c.-504+22634G>A ENSP00000512242.1:n.-504+22634G>A
ENST00000695893.1:c.-552+801G>A ENSP00000512243.1:n.-552+801G>A
ENST00000695894.1:c.-392+50329G>A ENSP00000512244.1:n.-392+50329G>A
ENST00000695895.1:c.-392+801G>A ENSP00000512245.1:n.-392+801G>A
ENST00000695896.1:c.-392+32758G>A ENSP00000512246.1:n.-392+32758G>A
ENST00000695897.1:c.-392+22634G>A ENSP00000512247.1:n.-392+22634G>A
ENST00000695898.1:c.-811+75723G>A ENSP00000512248.1:n.-811+75723G>A
ENST00000695900.1:c.-811+75723G>A ENSP00000512250.1:n.-811+75723G>A
ENST00000692225.1:c.-392+75059G>A ENSP00000509853.1:n.-392+75059G>A
ENST00000332246.10:c.-544+346G>A ENSP00000330805.6:n.-544+346G>A
ENST00000397998.7:c.-392+569G>A ENSP00000381084.3:n.-392+569G>A
ENST00000517494.1:c.-297+75723G>A ENSP00000429130.1:n.-297+75723G>A
ENST00000522573.5:n.143+50329G>A
ENST00000523227.5:n.313+801G>A
ENST00000523262.5:c.-392+75723G>A ENSP00000428089.1:n.-392+75723G>A
ENST00000524213.5:c.-392+75059G>A ENSP00000427740.1:n.-392+75059G>A
NM_018371.4:c.-544+346G>A NP_060841.5:n.-544+346G>A
NR_024040.1:n.55+569G>A
XM_006716362.1:c.-392+75059G>A XP_006716425.1:n.-392+75059G>A
XM_006716363.1:c.-392+801G>A XP_006716426.1:n.-392+801G>A
XM_011544584.1:c.-297+75059G>A XP_011542886.1:n.-297+75059G>A
NM_001354475.1:c.-392+32758G>A NP_001341404.1:n.-392+32758G>A
NM_001354476.1:c.-392+75723G>A NP_001341405.1:n.-392+75723G>A
NM_001354477.1:c.-547+75723G>A NP_001341406.1:n.-547+75723G>A
NM_001354480.1:c.-695+75723G>A NP_001341409.1:n.-695+75723G>A
NM_001354481.1:c.-552+75723G>A NP_001341410.1:n.-552+75723G>A
NM_001354483.1:c.-392+75059G>A NP_001341412.1:n.-392+75059G>A
NM_001354484.1:c.-392+32758G>A NP_001341413.1:n.-392+32758G>A
NM_001354485.1:c.-547+75059G>A NP_001341414.1:n.-547+75059G>A
NM_001354487.1:c.-552+75059G>A NP_001341416.1:n.-552+75059G>A
NM_001354488.1:c.-392+50329G>A NP_001341417.1:n.-392+50329G>A
NM_001354489.1:c.-544+75059G>A NP_001341418.1:n.-544+75059G>A
NM_001354490.1:c.-392+74812G>A NP_001341419.1:n.-392+74812G>A
NR_024040.2:n.66+569G>A
NR_148897.1:n.180+75723G>A
NR_148898.1:n.180+75723G>A
NR_148899.1:n.121+75059G>A
NR_148900.1:n.121+75059G>A
XM_017013627.1:c.-392+32758G>A XP_016869116.1:n.-392+32758G>A
XM_017013628.2:c.-392+50329G>A XP_016869117.1:n.-392+50329G>A
XM_017013629.1:c.-392+801G>A XP_016869118.1:n.-392+801G>A
XM_017013638.1:c.-552+801G>A XP_016869127.1:n.-552+801G>A
XM_024447191.1:c.-392+346G>A XP_024302959.1:n.-392+346G>A
XM_024447192.1:c.-392+569G>A XP_024302960.1:n.-392+569G>A
XM_024447193.1:c.-392+75323G>A XP_024302961.1:n.-392+75323G>A
XM_024447195.1:c.-2138+75059G>A XP_024302963.1:n.-2138+75059G>A
NM_001354475.2:c.-392+32758G>A NP_001341404.1:n.-392+32758G>A
NM_001354476.2:c.-392+75723G>A NP_001341405.1:n.-392+75723G>A
NM_001354477.2:c.-547+75723G>A NP_001341406.1:n.-547+75723G>A
NM_001354480.2:c.-695+75723G>A NP_001341409.1:n.-695+75723G>A
NM_001354481.2:c.-552+75723G>A NP_001341410.1:n.-552+75723G>A
NM_001354483.2:c.-392+75059G>A MANE Select NP_001341412.1:n.-392+75059G>A
NM_001354484.2:c.-392+32758G>A NP_001341413.1:n.-392+32758G>A
NM_001354485.2:c.-547+75059G>A NP_001341414.1:n.-547+75059G>A
NM_001354487.2:c.-552+75059G>A NP_001341416.1:n.-552+75059G>A
NM_001354488.2:c.-392+50329G>A NP_001341417.1:n.-392+50329G>A
NM_001354489.2:c.-544+75059G>A NP_001341418.1:n.-544+75059G>A
NM_001354490.2:c.-392+74812G>A NP_001341419.1:n.-392+74812G>A
NM_018371.5:c.-544+346G>A NP_060841.5:n.-544+346G>A
NR_024040.3:n.66+569G>A
NR_148897.2:n.59+75723G>A
NR_148898.2:n.59+75723G>A
NR_148899.2:n.92+75059G>A
NR_148900.2:n.92+75059G>A