Canonical Allele Identifier: CA7296985

Gene: GALC

Linked Data

• dbSNP Id: rs760730368
• ExAC: 14:88412032 C / T
• gnomAD v2: 14-88412032-C-T
• gnomAD v4: 14-87945688-C-T
• MyVariant Identifiers: chr14:g.88412032C>T (hg19) ; chr14:g.87945688C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945688C>T , CM000676.2:g.87945688C>T	GRCh38
NC_000014.8:g.88412032C>T , CM000676.1:g.88412032C>T	GRCh37
NC_000014.7:g.87481785C>T	NCBI36
NG_011853.2:g.52876G>A
NG_011853.3:g.52876G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1535G>A MANE Select	ENSP00000261304.2:p.Gly512Asp
ENST00000261304.6:c.1535G>A	ENSP00000261304.2:p.Gly512Asp
ENST00000393568.8:c.1466G>A	ENSP00000377198.4:p.Gly489Asp
ENST00000393569.6:c.1457G>A	ENSP00000377199.2:p.Gly486Asp
ENST00000544807.6:c.1367G>A	ENSP00000437513.2:p.Gly456Asp
ENST00000555000.5:c.902G>A	ENSP00000450472.1:p.Gly301Asp
ENST00000555179.1:c.206+2040G>A
ENST00000557316.5:c.*933G>A	ENSP00000452314.1:n.*933G>A
NM_000153.3:c.1535G>A	NP_000144.2:p.Gly512Asp
NM_001201401.1:c.1466G>A	NP_001188330.1:p.Gly489Asp
NM_001201402.1:c.1457G>A	NP_001188331.1:p.Gly486Asp
XM_011536618.1:c.1367G>A	XP_011534920.1:p.Gly456Asp
XM_011536618.2:c.1367G>A	XP_011534920.1:p.Gly456Asp
NM_000153.4:c.1535G>A MANE Select	NP_000144.2:p.Gly512Asp
NM_001201401.2:c.1466G>A	NP_001188330.1:p.Gly489Asp
NM_001201402.2:c.1457G>A	NP_001188331.1:p.Gly486Asp