Canonical Allele Identifier: CA265469440
Gene: GALC HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.87992996C>G
GRCh37 chr14:g.88459340C>G
Revel Score:
ENST00000261304 (MANE Select) 0.952
ENST00000393568 0.952
ENST00000445021 0.952
gnomAD v4:
chr14-87992996-C-G
Joint Max Group AF 0.00000253 (NFE)
Exomes Max Group AF 0.00000269 (NFE)
ClinVar RCV:
RCV001782165
RCV003502609
ClinVar Variation:
1324445
dbSNP:
11623
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87992996C>G , CM000676.2:g.87992996C>G GRCh38
NC_000014.8:g.88459340C>G , CM000676.1:g.88459340C>G GRCh37
NC_000014.7:g.87529093C>G NCBI36
NG_011853.2:g.5568G>C
NG_011853.3:g.5568G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261304.7:c.169G>C MANE Select ENSP00000261304.2:p.Gly57Arg
ENST00000261304.6:c.169G>C ENSP00000261304.2:p.Gly57Arg
ENST00000393568.8:c.169G>C ENSP00000377198.4:p.Gly57Arg
ENST00000393569.6:c.117+387G>C ENSP00000377199.2:n.117+387G>C
ENST00000474294.6:n.159G>C
ENST00000554372.5:c.169G>C ENSP00000451884.1:p.Gly57Arg
ENST00000556879.5:c.127G>C ENSP00000452208.1:p.Gly43Arg
ENST00000557316.5:c.169G>C ENSP00000452314.1:p.Gly57Arg
ENST00000622264.4:c.159G>C
NM_000153.3:c.169G>C NP_000144.2:p.Gly57Arg
NM_001201401.1:c.169G>C NP_001188330.1:p.Gly57Arg
NM_001201402.1:c.117+387G>C NP_001188331.1:n.117+387G>C
NM_000153.4:c.169G>C MANE Select NP_000144.2:p.Gly57Arg
NM_001201401.2:c.169G>C NP_001188330.1:p.Gly57Arg
NM_001201402.2:c.117+387G>C NP_001188331.1:n.117+387G>C
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