Canonical Allele Identifier: CA390747589

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88431938T>C (hg19) ; chr14:g.87965594T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87965594T>C , CM000676.2:g.87965594T>C	GRCh38
NC_000014.8:g.88431938T>C , CM000676.1:g.88431938T>C	GRCh37
NC_000014.7:g.87501691T>C	NCBI36
NG_011853.2:g.32970A>G
NG_011853.3:g.32970A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.944A>G MANE Select	ENSP00000261304.2:p.Glu315Gly
ENST00000261304.6:c.944A>G	ENSP00000261304.2:p.Glu315Gly
ENST00000393568.8:c.875A>G	ENSP00000377198.4:p.Glu292Gly
ENST00000393569.6:c.866A>G	ENSP00000377199.2:p.Glu289Gly
ENST00000474294.6:n.934A>G
ENST00000544807.6:c.776A>G	ENSP00000437513.2:p.Glu259Gly
ENST00000555000.5:c.311A>G	ENSP00000450472.1:p.Glu104Gly
ENST00000557316.5:c.*342A>G	ENSP00000452314.1:n.*342A>G
ENST00000557520.1:n.30A>G
ENST00000622264.4:c.934A>G
NM_000153.3:c.944A>G	NP_000144.2:p.Glu315Gly
NM_001201401.1:c.875A>G	NP_001188330.1:p.Glu292Gly
NM_001201402.1:c.866A>G	NP_001188331.1:p.Glu289Gly
XM_011536618.1:c.776A>G	XP_011534920.1:p.Glu259Gly
XM_011536618.2:c.776A>G	XP_011534920.1:p.Glu259Gly
NM_000153.4:c.944A>G MANE Select	NP_000144.2:p.Glu315Gly
NM_001201401.2:c.875A>G	NP_001188330.1:p.Glu292Gly
NM_001201402.2:c.866A>G	NP_001188331.1:p.Glu289Gly