Canonical Allele Identifier: CA8770834
Gene: GALK1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.75762711C>T
GRCh37 chr17:g.73758792C>T
gnomAD v2:
17:73758792 C / T
gnomAD v3:
17:75762711 C / T
gnomAD v4:
chr17-75762711-C-T
Joint Max Group AF 0.000005 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000381 (NFE)
ClinVar RCV:
RCV000331304
ClinVar Variation:
325231
dbSNP:
756263074
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75762711C>T , CM000679.2:g.75762711C>T GRCh38
NC_000017.10:g.73758792C>T , CM000679.1:g.73758792C>T GRCh37
NC_000017.9:g.71270387C>T NCBI36
NG_008079.1:g.7489G>A
NG_008079.2:g.7489G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000587707.2:c.818G>A ENSP00000468341.2:n.818G>A
ENST00000592997.6:c.696G>A ENSP00000464765.2:p.Glu232=
ENST00000588479.6:c.786G>A MANE Select ENSP00000465930.1:p.Glu262=
ENST00000225614.6:c.786G>A ENSP00000225614.1:p.Glu262=
ENST00000587707.1:c.572G>A ENSP00000468341.1:n.572G>A
ENST00000588479.5:c.786G>A ENSP00000465930.1:p.Glu262=
ENST00000592494.1:n.1105G>A
ENST00000592997.5:c.162G>A ENSP00000464765.1:p.Glu54=
NM_000154.1:c.786G>A NP_000145.1:p.Glu262=
NM_000154.2:c.786G>A MANE Select NP_000145.1:p.Glu262=
NM_001381985.1:c.786G>A NP_001368914.1:p.Glu262=
Search 100 bp 5'
Search 100 bp 3'