Canonical Allele Identifier: CA615275170

Gene: GALC

Linked Data

• dbSNP Id: rs1208359206
• gnomAD v2: 14-88434647-A-C
• gnomAD v3: 14-87968303-A-C
• gnomAD v4: 14-87968303-A-C
• MyVariant Identifiers: chr14:g.88434647A>C (hg19) ; chr14:g.87968303A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968303A>C , CM000676.2:g.87968303A>C	GRCh38
NC_000014.8:g.88434647A>C , CM000676.1:g.88434647A>C	GRCh37
NC_000014.7:g.87504400A>C	NCBI36
NG_011853.2:g.30261T>G
NG_011853.3:g.30261T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.908+32T>G MANE Select	ENSP00000261304.2:n.908+32T>G
ENST00000261304.6:c.908+32T>G	ENSP00000261304.2:n.908+32T>G
ENST00000393568.8:c.839+32T>G	ENSP00000377198.4:n.839+32T>G
ENST00000393569.6:c.830+32T>G	ENSP00000377199.2:n.830+32T>G
ENST00000474294.6:n.898+32T>G
ENST00000544807.6:c.740+32T>G	ENSP00000437513.2:n.740+32T>G
ENST00000555000.5:c.275+32T>G	ENSP00000450472.1:n.275+32T>G
ENST00000557316.5:c.*306+32T>G	ENSP00000452314.1:n.*306+32T>G
ENST00000622264.4:c.898+32T>G
NM_000153.3:c.908+32T>G	NP_000144.2:n.908+32T>G
NM_001201401.1:c.839+32T>G	NP_001188330.1:n.839+32T>G
NM_001201402.1:c.830+32T>G	NP_001188331.1:n.830+32T>G
XM_011536618.1:c.740+32T>G	XP_011534920.1:n.740+32T>G
XM_011536618.2:c.740+32T>G	XP_011534920.1:n.740+32T>G
NM_000153.4:c.908+32T>G MANE Select	NP_000144.2:n.908+32T>G
NM_001201401.2:c.839+32T>G	NP_001188330.1:n.839+32T>G
NM_001201402.2:c.830+32T>G	NP_001188331.1:n.830+32T>G