Canonical Allele Identifier: CA390745879

Gene: GALC

Linked Data

• dbSNP Id: rs1340293257
• gnomAD v4: 14-87941535-T-C
• MyVariant Identifiers: chr14:g.88407879T>C (hg19) ; chr14:g.87941535T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87941535T>C , CM000676.2:g.87941535T>C	GRCh38
NC_000014.8:g.88407879T>C , CM000676.1:g.88407879T>C	GRCh37
NC_000014.7:g.87477632T>C	NCBI36
NG_011853.2:g.57029A>G
NG_011853.3:g.57029A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1694A>G MANE Select	ENSP00000261304.2:p.Asp565Gly
ENST00000261304.6:c.1694A>G	ENSP00000261304.2:p.Asp565Gly
ENST00000393568.8:c.1625A>G	ENSP00000377198.4:p.Asp542Gly
ENST00000393569.6:c.1616A>G	ENSP00000377199.2:p.Asp539Gly
ENST00000544807.6:c.1526A>G	ENSP00000437513.2:p.Asp509Gly
ENST00000555000.5:c.1061A>G	ENSP00000450472.1:p.Asp354Gly
ENST00000555179.1:c.230A>G
ENST00000557316.5:c.*1092A>G	ENSP00000452314.1:n.*1092A>G
NM_000153.3:c.1694A>G	NP_000144.2:p.Asp565Gly
NM_001201401.1:c.1625A>G	NP_001188330.1:p.Asp542Gly
NM_001201402.1:c.1616A>G	NP_001188331.1:p.Asp539Gly
XM_011536618.1:c.1526A>G	XP_011534920.1:p.Asp509Gly
XM_011536618.2:c.1526A>G	XP_011534920.1:p.Asp509Gly
NM_000153.4:c.1694A>G MANE Select	NP_000144.2:p.Asp565Gly
NM_001201401.2:c.1625A>G	NP_001188330.1:p.Asp542Gly
NM_001201402.2:c.1616A>G	NP_001188331.1:p.Asp539Gly