Canonical Allele Identifier: CA709651061

Gene: GALC

Linked Data

• dbSNP Id: rs747839251
• gnomAD v3: 14-87947719-A-C
• gnomAD v4: 14-87947719-A-C
• MyVariant Identifiers: chr14:g.88414063A>C (hg19) ; chr14:g.87947719A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947719A>C , CM000676.2:g.87947719A>C	GRCh38
NC_000014.8:g.88414063A>C , CM000676.1:g.88414063A>C	GRCh37
NC_000014.7:g.87483816A>C	NCBI36
NG_011853.2:g.50845T>G
NG_011853.3:g.50845T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1489+9T>G MANE Select	ENSP00000261304.2:n.1489+9T>G
ENST00000261304.6:c.1489+9T>G	ENSP00000261304.2:n.1489+9T>G
ENST00000393568.8:c.1420+9T>G	ENSP00000377198.4:n.1420+9T>G
ENST00000393569.6:c.1411+9T>G	ENSP00000377199.2:n.1411+9T>G
ENST00000544807.6:c.1321+9T>G	ENSP00000437513.2:n.1321+9T>G
ENST00000555000.5:c.856+9T>G	ENSP00000450472.1:n.856+9T>G
ENST00000555179.1:c.206+9T>G
ENST00000557316.5:c.*887+9T>G	ENSP00000452314.1:n.*887+9T>G
NM_000153.3:c.1489+9T>G	NP_000144.2:n.1489+9T>G
NM_001201401.1:c.1420+9T>G	NP_001188330.1:n.1420+9T>G
NM_001201402.1:c.1411+9T>G	NP_001188331.1:n.1411+9T>G
XM_011536618.1:c.1321+9T>G	XP_011534920.1:n.1321+9T>G
XM_011536618.2:c.1321+9T>G	XP_011534920.1:n.1321+9T>G
NM_000153.4:c.1489+9T>G MANE Select	NP_000144.2:n.1489+9T>G
NM_001201401.2:c.1420+9T>G	NP_001188330.1:n.1420+9T>G
NM_001201402.2:c.1411+9T>G	NP_001188331.1:n.1411+9T>G