Canonical Allele Identifier: CA264685336

Gene: GALC

Linked Data

• dbSNP Id: rs999190294
• gnomAD v2: 14-88413706-C-T
• gnomAD v3: 14-87947362-C-T
• gnomAD v4: 14-87947362-C-T
• MyVariant Identifiers: chr14:g.88413706C>T (hg19) ; chr14:g.87947362C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947362C>T , CM000676.2:g.87947362C>T	GRCh38
NC_000014.8:g.88413706C>T , CM000676.1:g.88413706C>T	GRCh37
NC_000014.7:g.87483459C>T	NCBI36
NG_011853.2:g.51202G>A
NG_011853.3:g.51202G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1489+366G>A MANE Select	ENSP00000261304.2:n.1489+366G>A
ENST00000261304.6:c.1489+366G>A	ENSP00000261304.2:n.1489+366G>A
ENST00000393568.8:c.1420+366G>A	ENSP00000377198.4:n.1420+366G>A
ENST00000393569.6:c.1411+366G>A	ENSP00000377199.2:n.1411+366G>A
ENST00000544807.6:c.1321+366G>A	ENSP00000437513.2:n.1321+366G>A
ENST00000555000.5:c.856+366G>A	ENSP00000450472.1:n.856+366G>A
ENST00000555179.1:c.206+366G>A
ENST00000557316.5:c.*887+366G>A	ENSP00000452314.1:n.*887+366G>A
NM_000153.3:c.1489+366G>A	NP_000144.2:n.1489+366G>A
NM_001201401.1:c.1420+366G>A	NP_001188330.1:n.1420+366G>A
NM_001201402.1:c.1411+366G>A	NP_001188331.1:n.1411+366G>A
XM_011536618.1:c.1321+366G>A	XP_011534920.1:n.1321+366G>A
XM_011536618.2:c.1321+366G>A	XP_011534920.1:n.1321+366G>A
NM_000153.4:c.1489+366G>A MANE Select	NP_000144.2:n.1489+366G>A
NM_001201401.2:c.1420+366G>A	NP_001188330.1:n.1420+366G>A
NM_001201402.2:c.1411+366G>A	NP_001188331.1:n.1411+366G>A