Canonical Allele Identifier: CA390751447

Gene: GALC

Linked Data

• dbSNP Id: rs1886881320
• gnomAD v3: 14-87984414-A-T
• gnomAD v4: 14-87984414-A-T
• MyVariant Identifiers: chr14:g.88450758A>T (hg19) ; chr14:g.87984414A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984414A>T , CM000676.2:g.87984414A>T	GRCh38
NC_000014.8:g.88450758A>T , CM000676.1:g.88450758A>T	GRCh37
NC_000014.7:g.87520511A>T	NCBI36
NG_011853.2:g.14150T>A
NG_011853.3:g.14150T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.562T>A MANE Select	ENSP00000261304.2:p.Leu188Met
ENST00000261304.6:c.562T>A	ENSP00000261304.2:p.Leu188Met
ENST00000393568.8:c.493T>A	ENSP00000377198.4:p.Leu165Met
ENST00000393569.6:c.484T>A	ENSP00000377199.2:p.Leu162Met
ENST00000474294.6:n.552T>A
ENST00000544807.6:c.394T>A	ENSP00000437513.2:p.Leu132Met
ENST00000554372.5:c.*311T>A	ENSP00000451884.1:n.*311T>A
ENST00000554916.5:n.441T>A
ENST00000556261.5:n.263T>A
ENST00000557316.5:c.562T>A	ENSP00000452314.1:p.Leu188Met
ENST00000622264.4:c.552T>A
NM_000153.3:c.562T>A	NP_000144.2:p.Leu188Met
NM_001201401.1:c.493T>A	NP_001188330.1:p.Leu165Met
NM_001201402.1:c.484T>A	NP_001188331.1:p.Leu162Met
XM_011536618.1:c.394T>A	XP_011534920.1:p.Leu132Met
XM_011536618.2:c.394T>A	XP_011534920.1:p.Leu132Met
NM_000153.4:c.562T>A MANE Select	NP_000144.2:p.Leu188Met
NM_001201401.2:c.493T>A	NP_001188330.1:p.Leu165Met
NM_001201402.2:c.484T>A	NP_001188331.1:p.Leu162Met