Canonical Allele Identifier: CA7296988

Gene: GALC

Linked Data

• dbSNP Id: rs774001462
• ExAC: 14:88412057 C / A
• gnomAD v2: 14-88412057-C-A
• gnomAD v4: 14-87945713-C-A
• MyVariant Identifiers: chr14:g.88412057C>A (hg19) ; chr14:g.87945713C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945713C>A , CM000676.2:g.87945713C>A	GRCh38
NC_000014.8:g.88412057C>A , CM000676.1:g.88412057C>A	GRCh37
NC_000014.7:g.87481810C>A	NCBI36
NG_011853.2:g.52851G>T
NG_011853.3:g.52851G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1510G>T MANE Select	ENSP00000261304.2:p.Ala504Ser
ENST00000261304.6:c.1510G>T	ENSP00000261304.2:p.Ala504Ser
ENST00000393568.8:c.1441G>T	ENSP00000377198.4:p.Ala481Ser
ENST00000393569.6:c.1432G>T	ENSP00000377199.2:p.Ala478Ser
ENST00000544807.6:c.1342G>T	ENSP00000437513.2:p.Ala448Ser
ENST00000555000.5:c.877G>T	ENSP00000450472.1:p.Ala293Ser
ENST00000555179.1:c.206+2015G>T
ENST00000557316.5:c.*908G>T	ENSP00000452314.1:n.*908G>T
NM_000153.3:c.1510G>T	NP_000144.2:p.Ala504Ser
NM_001201401.1:c.1441G>T	NP_001188330.1:p.Ala481Ser
NM_001201402.1:c.1432G>T	NP_001188331.1:p.Ala478Ser
XM_011536618.1:c.1342G>T	XP_011534920.1:p.Ala448Ser
XM_011536618.2:c.1342G>T	XP_011534920.1:p.Ala448Ser
NM_000153.4:c.1510G>T MANE Select	NP_000144.2:p.Ala504Ser
NM_001201401.2:c.1441G>T	NP_001188330.1:p.Ala481Ser
NM_001201402.2:c.1432G>T	NP_001188331.1:p.Ala478Ser