Canonical Allele Identifier: CA7297192

Gene: GALC

Linked Data

• dbSNP Id: rs776368825
• ExAC: 14:88431936 G / T
• MyVariant Identifiers: chr14:g.88431936G>T (hg19) ; chr14:g.87965592G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87965592G>T , CM000676.2:g.87965592G>T	GRCh38
NC_000014.8:g.88431936G>T , CM000676.1:g.88431936G>T	GRCh37
NC_000014.7:g.87501689G>T	NCBI36
NG_011853.2:g.32972C>A
NG_011853.3:g.32972C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.946C>A MANE Select	ENSP00000261304.2:p.Gln316Lys
ENST00000261304.6:c.946C>A	ENSP00000261304.2:p.Gln316Lys
ENST00000393568.8:c.877C>A	ENSP00000377198.4:p.Gln293Lys
ENST00000393569.6:c.868C>A	ENSP00000377199.2:p.Gln290Lys
ENST00000474294.6:n.936C>A
ENST00000544807.6:c.778C>A	ENSP00000437513.2:p.Gln260Lys
ENST00000555000.5:c.313C>A	ENSP00000450472.1:p.Gln105Lys
ENST00000557316.5:c.*344C>A	ENSP00000452314.1:n.*344C>A
ENST00000557520.1:n.32C>A
ENST00000622264.4:c.936C>A
NM_000153.3:c.946C>A	NP_000144.2:p.Gln316Lys
NM_001201401.1:c.877C>A	NP_001188330.1:p.Gln293Lys
NM_001201402.1:c.868C>A	NP_001188331.1:p.Gln290Lys
XM_011536618.1:c.778C>A	XP_011534920.1:p.Gln260Lys
XM_011536618.2:c.778C>A	XP_011534920.1:p.Gln260Lys
NM_000153.4:c.946C>A MANE Select	NP_000144.2:p.Gln316Lys
NM_001201401.2:c.877C>A	NP_001188330.1:p.Gln293Lys
NM_001201402.2:c.868C>A	NP_001188331.1:p.Gln290Lys