Canonical Allele Identifier: CA709662847

Gene: GALC

Linked Data

• dbSNP Id: rs1200079339
• gnomAD v4: 14-87968195-A-T
• MyVariant Identifiers: chr14:g.88434539A>T (hg19) ; chr14:g.87968195A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968195A>T , CM000676.2:g.87968195A>T	GRCh38
NC_000014.8:g.88434539A>T , CM000676.1:g.88434539A>T	GRCh37
NC_000014.7:g.87504292A>T	NCBI36
NG_011853.2:g.30369T>A
NG_011853.3:g.30369T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.908+140T>A MANE Select	ENSP00000261304.2:n.908+140T>A
ENST00000261304.6:c.908+140T>A	ENSP00000261304.2:n.908+140T>A
ENST00000393568.8:c.839+140T>A	ENSP00000377198.4:n.839+140T>A
ENST00000393569.6:c.830+140T>A	ENSP00000377199.2:n.830+140T>A
ENST00000474294.6:n.898+140T>A
ENST00000544807.6:c.740+140T>A	ENSP00000437513.2:n.740+140T>A
ENST00000555000.5:c.275+140T>A	ENSP00000450472.1:n.275+140T>A
ENST00000557316.5:c.*306+140T>A	ENSP00000452314.1:n.*306+140T>A
ENST00000622264.4:c.898+140T>A
NM_000153.3:c.908+140T>A	NP_000144.2:n.908+140T>A
NM_001201401.1:c.839+140T>A	NP_001188330.1:n.839+140T>A
NM_001201402.1:c.830+140T>A	NP_001188331.1:n.830+140T>A
XM_011536618.1:c.740+140T>A	XP_011534920.1:n.740+140T>A
XM_011536618.2:c.740+140T>A	XP_011534920.1:n.740+140T>A
NM_000153.4:c.908+140T>A MANE Select	NP_000144.2:n.908+140T>A
NM_001201401.2:c.839+140T>A	NP_001188330.1:n.839+140T>A
NM_001201402.2:c.830+140T>A	NP_001188331.1:n.830+140T>A