Canonical Allele Identifier: CA7296976
Gene: GALC HGNC NCBI
COSMIC:
COSM4918420 (not active)
COSM4918421 (not active)
MyVariant.info:
GRCh38 chr14:g.87945637G>A
GRCh37 chr14:g.88411981G>A
Revel Score:
ENST00000261304 (MANE Select) 0.755
ENST00000544807 0.755
ENST00000393569 0.755
ENST00000539620 0.755
ENST00000393568 0.755
gnomAD v2:
14:88411981 G / A
gnomAD v3:
14:87945637 G / A
gnomAD v4:
chr14-87945637-G-A
Joint Max Group AF 0.00011601 (NFE)
Genomes Max Group AF 0.00007915 (NFE)
Exomes Max Group AF 0.00011494 (NFE)
ClinVar RCV:
RCV000410159
RCV001093133
ClinVar Variation:
370073
dbSNP:
200960659
JSON-LD

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
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