Canonical Allele Identifier: CA264683758

Gene: GALC

Linked Data

• ClinVar Variation Id: 2281390
• ClinVar RCV Id: RCV002830704
• dbSNP Id: rs751786254
• gnomAD v3: 14-87945686-C-T
• gnomAD v4: 14-87945686-C-T
• MyVariant Identifiers: chr14:g.88412030C>T (hg19) ; chr14:g.87945686C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945686C>T , CM000676.2:g.87945686C>T	GRCh38
NC_000014.8:g.88412030C>T , CM000676.1:g.88412030C>T	GRCh37
NC_000014.7:g.87481783C>T	NCBI36
NG_011853.2:g.52878G>A
NG_011853.3:g.52878G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1537G>A MANE Select	ENSP00000261304.2:p.Val513Ile
ENST00000261304.6:c.1537G>A	ENSP00000261304.2:p.Val513Ile
ENST00000393568.8:c.1468G>A	ENSP00000377198.4:p.Val490Ile
ENST00000393569.6:c.1459G>A	ENSP00000377199.2:p.Val487Ile
ENST00000544807.6:c.1369G>A	ENSP00000437513.2:p.Val457Ile
ENST00000555000.5:c.904G>A	ENSP00000450472.1:p.Val302Ile
ENST00000555179.1:c.206+2042G>A
ENST00000557316.5:c.*935G>A	ENSP00000452314.1:n.*935G>A
NM_000153.3:c.1537G>A	NP_000144.2:p.Val513Ile
NM_001201401.1:c.1468G>A	NP_001188330.1:p.Val490Ile
NM_001201402.1:c.1459G>A	NP_001188331.1:p.Val487Ile
XM_011536618.1:c.1369G>A	XP_011534920.1:p.Val457Ile
XM_011536618.2:c.1369G>A	XP_011534920.1:p.Val457Ile
NM_000153.4:c.1537G>A MANE Select	NP_000144.2:p.Val513Ile
NM_001201401.2:c.1468G>A	NP_001188330.1:p.Val490Ile
NM_001201402.2:c.1459G>A	NP_001188331.1:p.Val487Ile