Canonical Allele Identifier: CA390749297

Gene: GALC

Linked Data

• dbSNP Id: rs1416058083
• gnomAD v2: 14-88442717-A-T
• gnomAD v4: 14-87976373-A-T
• MyVariant Identifiers: chr14:g.88442717A>T (hg19) ; chr14:g.87976373A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976373A>T , CM000676.2:g.87976373A>T	GRCh38
NC_000014.8:g.88442717A>T , CM000676.1:g.88442717A>T	GRCh37
NC_000014.7:g.87512470A>T	NCBI36
NG_011853.2:g.22191T>A
NG_011853.3:g.22191T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.737T>A MANE Select	ENSP00000261304.2:p.Val246Glu
ENST00000261304.6:c.737T>A	ENSP00000261304.2:p.Val246Glu
ENST00000393568.8:c.668T>A	ENSP00000377198.4:p.Val223Glu
ENST00000393569.6:c.659T>A	ENSP00000377199.2:p.Val220Glu
ENST00000474294.6:n.727T>A
ENST00000477716.3:n.492T>A
ENST00000544807.6:c.569T>A	ENSP00000437513.2:p.Val190Glu
ENST00000554916.5:n.616T>A
ENST00000555000.5:c.104T>A	ENSP00000450472.1:p.Val35Glu
ENST00000557316.5:c.*135T>A	ENSP00000452314.1:n.*135T>A
ENST00000622264.4:c.727T>A
NM_000153.3:c.737T>A	NP_000144.2:p.Val246Glu
NM_001201401.1:c.668T>A	NP_001188330.1:p.Val223Glu
NM_001201402.1:c.659T>A	NP_001188331.1:p.Val220Glu
XM_011536618.1:c.569T>A	XP_011534920.1:p.Val190Glu
XM_011536618.2:c.569T>A	XP_011534920.1:p.Val190Glu
NM_000153.4:c.737T>A MANE Select	NP_000144.2:p.Val246Glu
NM_001201401.2:c.668T>A	NP_001188330.1:p.Val223Glu
NM_001201402.2:c.659T>A	NP_001188331.1:p.Val220Glu