Canonical Allele Identifier: CA390751357

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88450739C>T (hg19) ; chr14:g.87984395C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984395C>T , CM000676.2:g.87984395C>T	GRCh38
NC_000014.8:g.88450739C>T , CM000676.1:g.88450739C>T	GRCh37
NC_000014.7:g.87520492C>T	NCBI36
NG_011853.2:g.14169G>A
NG_011853.3:g.14169G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.581G>A MANE Select	ENSP00000261304.2:p.Gly194Glu
ENST00000261304.6:c.581G>A	ENSP00000261304.2:p.Gly194Glu
ENST00000393568.8:c.512G>A	ENSP00000377198.4:p.Gly171Glu
ENST00000393569.6:c.503G>A	ENSP00000377199.2:p.Gly168Glu
ENST00000474294.6:n.571G>A
ENST00000544807.6:c.413G>A	ENSP00000437513.2:p.Gly138Glu
ENST00000554372.5:c.*330G>A	ENSP00000451884.1:n.*330G>A
ENST00000554916.5:n.460G>A
ENST00000556261.5:n.282G>A
ENST00000557316.5:c.581G>A	ENSP00000452314.1:p.Gly194Glu
ENST00000622264.4:c.571G>A
NM_000153.3:c.581G>A	NP_000144.2:p.Gly194Glu
NM_001201401.1:c.512G>A	NP_001188330.1:p.Gly171Glu
NM_001201402.1:c.503G>A	NP_001188331.1:p.Gly168Glu
XM_011536618.1:c.413G>A	XP_011534920.1:p.Gly138Glu
XM_011536618.2:c.413G>A	XP_011534920.1:p.Gly138Glu
NM_000153.4:c.581G>A MANE Select	NP_000144.2:p.Gly194Glu
NM_001201401.2:c.512G>A	NP_001188330.1:p.Gly171Glu
NM_001201402.2:c.503G>A	NP_001188331.1:p.Gly168Glu