Canonical Allele Identifier: CA390771699
Gene: GALC HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.87992996C>A
GRCh37 chr14:g.88459340C>A
Revel Score:
ENST00000261304 (MANE Select) 0.946
ENST00000393568 0.946
ENST00000445021 0.946
ClinVar RCV:
RCV002050063
ClinVar Variation:
1346242
dbSNP:
11623
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000261304.7:c.169G>T MANE Select ENSP00000261304.2:p.Gly57Cys
ENST00000261304.6:c.169G>T ENSP00000261304.2:p.Gly57Cys
ENST00000393568.8:c.169G>T ENSP00000377198.4:p.Gly57Cys
ENST00000393569.6:c.117+387G>T ENSP00000377199.2:n.117+387G>T
ENST00000474294.6:n.159G>T
ENST00000554372.5:c.169G>T ENSP00000451884.1:p.Gly57Cys
ENST00000556879.5:c.127G>T ENSP00000452208.1:p.Gly43Cys
ENST00000557316.5:c.169G>T ENSP00000452314.1:p.Gly57Cys
ENST00000622264.4:c.159G>T
NM_000153.3:c.169G>T NP_000144.2:p.Gly57Cys
NM_001201401.1:c.169G>T NP_001188330.1:p.Gly57Cys
NM_001201402.1:c.117+387G>T NP_001188331.1:n.117+387G>T
NM_000153.4:c.169G>T MANE Select NP_000144.2:p.Gly57Cys
NM_001201401.2:c.169G>T NP_001188330.1:p.Gly57Cys
NM_001201402.2:c.117+387G>T NP_001188331.1:n.117+387G>T
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