Canonical Allele Identifier: CA7296976

Gene: GALC

Linked Data

• ClinVar Variation Id: 370073
• ClinVar RCV Id: RCV000410159 ; RCV001093133
• dbSNP Id: rs200960659
• ExAC: 14:88411981 G / A
• gnomAD v2: 14-88411981-G-A
• gnomAD v3: 14-87945637-G-A
• gnomAD v4: 14-87945637-G-A
• MyVariant Identifiers: chr14:g.88411981G>A (hg19) ; chr14:g.87945637G>A (hg38)
• PubMed: PMID:9266397 ; PMID:9338580 ; PMID:20886637 ; PMID:21824559 ; PMID:23128445 ; PMID:23197103

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945637G>A , CM000676.2:g.87945637G>A	GRCh38
NC_000014.8:g.88411981G>A , CM000676.1:g.88411981G>A	GRCh37
NC_000014.7:g.87481734G>A	NCBI36
NG_011853.2:g.52927C>T
NG_011853.3:g.52927C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1586C>T MANE Select	ENSP00000261304.2:p.Thr529Met
ENST00000261304.6:c.1586C>T	ENSP00000261304.2:p.Thr529Met
ENST00000393568.8:c.1517C>T	ENSP00000377198.4:p.Thr506Met
ENST00000393569.6:c.1508C>T	ENSP00000377199.2:p.Thr503Met
ENST00000544807.6:c.1418C>T	ENSP00000437513.2:p.Thr473Met
ENST00000555000.5:c.953C>T	ENSP00000450472.1:p.Thr318Met
ENST00000555179.1:c.206+2091C>T
ENST00000557316.5:c.*984C>T	ENSP00000452314.1:n.*984C>T
NM_000153.3:c.1586C>T	NP_000144.2:p.Thr529Met
NM_001201401.1:c.1517C>T	NP_001188330.1:p.Thr506Met
NM_001201402.1:c.1508C>T	NP_001188331.1:p.Thr503Met
XM_011536618.1:c.1418C>T	XP_011534920.1:p.Thr473Met
XM_011536618.2:c.1418C>T	XP_011534920.1:p.Thr473Met
NM_000153.4:c.1586C>T MANE Select	NP_000144.2:p.Thr529Met
NM_001201401.2:c.1517C>T	NP_001188330.1:p.Thr506Met
NM_001201402.2:c.1508C>T	NP_001188331.1:p.Thr503Met