Canonical Allele Identifier: CA390751896

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88450856C>G (hg19) ; chr14:g.87984512C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984512C>G , CM000676.2:g.87984512C>G	GRCh38
NC_000014.8:g.88450856C>G , CM000676.1:g.88450856C>G	GRCh37
NC_000014.7:g.87520609C>G	NCBI36
NG_011853.2:g.14052G>C
NG_011853.3:g.14052G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.464G>C MANE Select	ENSP00000261304.2:p.Gly155Ala
ENST00000261304.6:c.464G>C	ENSP00000261304.2:p.Gly155Ala
ENST00000393568.8:c.395G>C	ENSP00000377198.4:p.Gly132Ala
ENST00000393569.6:c.386G>C	ENSP00000377199.2:p.Gly129Ala
ENST00000474294.6:n.454G>C
ENST00000544807.6:c.296G>C	ENSP00000437513.2:p.Gly99Ala
ENST00000554372.5:c.*213G>C	ENSP00000451884.1:n.*213G>C
ENST00000554916.5:n.343G>C
ENST00000556261.5:n.165G>C
ENST00000556879.5:c.524G>C	ENSP00000452208.1:n.524G>C
ENST00000557316.5:c.464G>C	ENSP00000452314.1:p.Gly155Ala
ENST00000622264.4:c.454G>C
NM_000153.3:c.464G>C	NP_000144.2:p.Gly155Ala
NM_001201401.1:c.395G>C	NP_001188330.1:p.Gly132Ala
NM_001201402.1:c.386G>C	NP_001188331.1:p.Gly129Ala
XM_011536618.1:c.296G>C	XP_011534920.1:p.Gly99Ala
XM_011536618.2:c.296G>C	XP_011534920.1:p.Gly99Ala
NM_000153.4:c.464G>C MANE Select	NP_000144.2:p.Gly155Ala
NM_001201401.2:c.395G>C	NP_001188330.1:p.Gly132Ala
NM_001201402.2:c.386G>C	NP_001188331.1:p.Gly129Ala