Canonical Allele Identifier: CA487366233

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88442728T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976384T>C , CM000676.2:g.87976384T>C	GRCh38
NC_000014.8:g.88442728T>C , CM000676.1:g.88442728T>C	GRCh37
NC_000014.7:g.87512481T>C	NCBI36
NG_011853.2:g.22180A>G
NG_011853.3:g.22180A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.726A>G MANE Select	ENSP00000261304.2:p.Glu242=
ENST00000261304.6:c.726A>G	ENSP00000261304.2:p.Glu242=
ENST00000393568.8:c.657A>G	ENSP00000377198.4:p.Glu219=
ENST00000393569.6:c.648A>G	ENSP00000377199.2:p.Glu216=
ENST00000474294.6:n.716A>G
ENST00000477716.3:n.481A>G
ENST00000544807.6:c.558A>G	ENSP00000437513.2:p.Glu186=
ENST00000554916.5:n.605A>G
ENST00000555000.5:c.93A>G	ENSP00000450472.1:p.Glu31=
ENST00000557316.5:c.*124A>G	ENSP00000452314.1:n.*124A>G
ENST00000622264.4:c.716A>G
NM_000153.3:c.726A>G	NP_000144.2:p.Glu242=
NM_001201401.1:c.657A>G	NP_001188330.1:p.Glu219=
NM_001201402.1:c.648A>G	NP_001188331.1:p.Glu216=
XM_011536618.1:c.558A>G	XP_011534920.1:p.Glu186=
XM_011536618.2:c.558A>G	XP_011534920.1:p.Glu186=
NM_000153.4:c.726A>G MANE Select	NP_000144.2:p.Glu242=
NM_001201401.2:c.657A>G	NP_001188330.1:p.Glu219=
NM_001201402.2:c.648A>G	NP_001188331.1:p.Glu216=