Canonical Allele Identifier: CA615271322

Gene: GALC

Linked Data

• dbSNP Id: rs1280828199
• gnomAD v2: 14-88414005-C-A
• MyVariant Identifiers: chr14:g.88414005C>A (hg19) ; chr14:g.87947661C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947661C>A , CM000676.2:g.87947661C>A	GRCh38
NC_000014.8:g.88414005C>A , CM000676.1:g.88414005C>A	GRCh37
NC_000014.7:g.87483758C>A	NCBI36
NG_011853.2:g.50903G>T
NG_011853.3:g.50903G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1489+67G>T MANE Select	ENSP00000261304.2:n.1489+67G>T
ENST00000261304.6:c.1489+67G>T	ENSP00000261304.2:n.1489+67G>T
ENST00000393568.8:c.1420+67G>T	ENSP00000377198.4:n.1420+67G>T
ENST00000393569.6:c.1411+67G>T	ENSP00000377199.2:n.1411+67G>T
ENST00000544807.6:c.1321+67G>T	ENSP00000437513.2:n.1321+67G>T
ENST00000555000.5:c.856+67G>T	ENSP00000450472.1:n.856+67G>T
ENST00000555179.1:c.206+67G>T
ENST00000557316.5:c.*887+67G>T	ENSP00000452314.1:n.*887+67G>T
NM_000153.3:c.1489+67G>T	NP_000144.2:n.1489+67G>T
NM_001201401.1:c.1420+67G>T	NP_001188330.1:n.1420+67G>T
NM_001201402.1:c.1411+67G>T	NP_001188331.1:n.1411+67G>T
XM_011536618.1:c.1321+67G>T	XP_011534920.1:n.1321+67G>T
XM_011536618.2:c.1321+67G>T	XP_011534920.1:n.1321+67G>T
NM_000153.4:c.1489+67G>T MANE Select	NP_000144.2:n.1489+67G>T
NM_001201401.2:c.1420+67G>T	NP_001188330.1:n.1420+67G>T
NM_001201402.2:c.1411+67G>T	NP_001188331.1:n.1411+67G>T