Canonical Allele Identifier: CA390751421

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88450753G>C (hg19) ; chr14:g.87984409G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984409G>C , CM000676.2:g.87984409G>C	GRCh38
NC_000014.8:g.88450753G>C , CM000676.1:g.88450753G>C	GRCh37
NC_000014.7:g.87520506G>C	NCBI36
NG_011853.2:g.14155C>G
NG_011853.3:g.14155C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.567C>G MANE Select	ENSP00000261304.2:p.Asp189Glu
ENST00000261304.6:c.567C>G	ENSP00000261304.2:p.Asp189Glu
ENST00000393568.8:c.498C>G	ENSP00000377198.4:p.Asp166Glu
ENST00000393569.6:c.489C>G	ENSP00000377199.2:p.Asp163Glu
ENST00000474294.6:n.557C>G
ENST00000544807.6:c.399C>G	ENSP00000437513.2:p.Asp133Glu
ENST00000554372.5:c.*316C>G	ENSP00000451884.1:n.*316C>G
ENST00000554916.5:n.446C>G
ENST00000556261.5:n.268C>G
ENST00000557316.5:c.567C>G	ENSP00000452314.1:p.Asp189Glu
ENST00000622264.4:c.557C>G
NM_000153.3:c.567C>G	NP_000144.2:p.Asp189Glu
NM_001201401.1:c.498C>G	NP_001188330.1:p.Asp166Glu
NM_001201402.1:c.489C>G	NP_001188331.1:p.Asp163Glu
XM_011536618.1:c.399C>G	XP_011534920.1:p.Asp133Glu
XM_011536618.2:c.399C>G	XP_011534920.1:p.Asp133Glu
NM_000153.4:c.567C>G MANE Select	NP_000144.2:p.Asp189Glu
NM_001201401.2:c.498C>G	NP_001188330.1:p.Asp166Glu
NM_001201402.2:c.489C>G	NP_001188331.1:p.Asp163Glu