Canonical Allele Identifier: CA390750771

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88448562G>C (hg19) ; chr14:g.87982218G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87982218G>C , CM000676.2:g.87982218G>C	GRCh38
NC_000014.8:g.88448562G>C , CM000676.1:g.88448562G>C	GRCh37
NC_000014.7:g.87518315G>C	NCBI36
NG_011853.2:g.16346C>G
NG_011853.3:g.16346C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.608C>G MANE Select	ENSP00000261304.2:p.Ala203Gly
ENST00000261304.6:c.608C>G	ENSP00000261304.2:p.Ala203Gly
ENST00000393568.8:c.539C>G	ENSP00000377198.4:p.Ala180Gly
ENST00000393569.6:c.530C>G	ENSP00000377199.2:p.Ala177Gly
ENST00000474294.6:n.598C>G
ENST00000544807.6:c.440C>G	ENSP00000437513.2:p.Ala147Gly
ENST00000554372.5:c.*357C>G	ENSP00000451884.1:n.*357C>G
ENST00000554916.5:n.487C>G
ENST00000556261.5:n.309C>G
ENST00000557316.5:c.608C>G	ENSP00000452314.1:p.Ala203Gly
ENST00000622264.4:c.598C>G
NM_000153.3:c.608C>G	NP_000144.2:p.Ala203Gly
NM_001201401.1:c.539C>G	NP_001188330.1:p.Ala180Gly
NM_001201402.1:c.530C>G	NP_001188331.1:p.Ala177Gly
XM_011536618.1:c.440C>G	XP_011534920.1:p.Ala147Gly
XM_011536618.2:c.440C>G	XP_011534920.1:p.Ala147Gly
NM_000153.4:c.608C>G MANE Select	NP_000144.2:p.Ala203Gly
NM_001201401.2:c.539C>G	NP_001188330.1:p.Ala180Gly
NM_001201402.2:c.530C>G	NP_001188331.1:p.Ala177Gly