Canonical Allele Identifier: CA390751363

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88450740C>T (hg19) ; chr14:g.87984396C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984396C>T , CM000676.2:g.87984396C>T	GRCh38
NC_000014.8:g.88450740C>T , CM000676.1:g.88450740C>T	GRCh37
NC_000014.7:g.87520493C>T	NCBI36
NG_011853.2:g.14168G>A
NG_011853.3:g.14168G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.580G>A MANE Select	ENSP00000261304.2:p.Gly194Arg
ENST00000261304.6:c.580G>A	ENSP00000261304.2:p.Gly194Arg
ENST00000393568.8:c.511G>A	ENSP00000377198.4:p.Gly171Arg
ENST00000393569.6:c.502G>A	ENSP00000377199.2:p.Gly168Arg
ENST00000474294.6:n.570G>A
ENST00000544807.6:c.412G>A	ENSP00000437513.2:p.Gly138Arg
ENST00000554372.5:c.*329G>A	ENSP00000451884.1:n.*329G>A
ENST00000554916.5:n.459G>A
ENST00000556261.5:n.281G>A
ENST00000557316.5:c.580G>A	ENSP00000452314.1:p.Gly194Arg
ENST00000622264.4:c.570G>A
NM_000153.3:c.580G>A	NP_000144.2:p.Gly194Arg
NM_001201401.1:c.511G>A	NP_001188330.1:p.Gly171Arg
NM_001201402.1:c.502G>A	NP_001188331.1:p.Gly168Arg
XM_011536618.1:c.412G>A	XP_011534920.1:p.Gly138Arg
XM_011536618.2:c.412G>A	XP_011534920.1:p.Gly138Arg
NM_000153.4:c.580G>A MANE Select	NP_000144.2:p.Gly194Arg
NM_001201401.2:c.511G>A	NP_001188330.1:p.Gly171Arg
NM_001201402.2:c.502G>A	NP_001188331.1:p.Gly168Arg