Canonical Allele Identifier: CA7297509
Gene: GALC HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.87993084G>A
GRCh37 chr14:g.88459428G>A
gnomAD v2:
14:88459428 G / A
gnomAD v3:
14:87993084 G / A
gnomAD v4:
chr14-87993084-G-A
Joint Max Group AF 0.00027664 (SAS)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.0002928 (SAS)
ClinVar Allele:
339708
ClinVar RCV:
RCV000381404
ClinVar Variation:
314761
dbSNP:
759433028
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87993084G>A , CM000676.2:g.87993084G>A GRCh38
NC_000014.8:g.88459428G>A , CM000676.1:g.88459428G>A GRCh37
NC_000014.7:g.87529181G>A NCBI36
NG_011853.2:g.5480C>T
NG_011853.3:g.5480C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261304.7:c.81C>T MANE Select ENSP00000261304.2:p.Ala27=
ENST00000261304.6:c.81C>T ENSP00000261304.2:p.Ala27=
ENST00000393568.8:c.81C>T ENSP00000377198.4:p.Ala27=
ENST00000393569.6:c.117+299C>T ENSP00000377199.2:n.117+299C>T
ENST00000474294.6:n.71C>T
ENST00000554372.5:c.81C>T ENSP00000451884.1:p.Ala27=
ENST00000556879.5:c.39C>T ENSP00000452208.1:p.Ala13=
ENST00000557316.5:c.81C>T ENSP00000452314.1:p.Ala27=
ENST00000622264.4:c.71C>T
NM_000153.3:c.81C>T NP_000144.2:p.Ala27=
NM_001201401.1:c.81C>T NP_001188330.1:p.Ala27=
NM_001201402.1:c.117+299C>T NP_001188331.1:n.117+299C>T
NM_000153.4:c.81C>T MANE Select NP_000144.2:p.Ala27=
NM_001201401.2:c.81C>T NP_001188330.1:p.Ala27=
NM_001201402.2:c.117+299C>T NP_001188331.1:n.117+299C>T
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