Canonical Allele Identifier: CA117659
Gene: GALK1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.75758091G>A
GRCh37 chr17:g.73754172G>A
gnomAD v2:
17:73754172 G / A
gnomAD v3:
17:75758091 G / A
gnomAD v4:
chr17-75758091-G-A
Joint Max Group AF 0.00026122 (AMR)
Genomes Max Group AF 0.00045157 (AMR)
Exomes Max Group AF 0.00013742 (AMR)
ClinVar Allele:
20670
ClinVar RCV:
RCV000005985
ClinVar Variation:
5631
dbSNP:
111033608
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75758091G>A , CM000679.2:g.75758091G>A GRCh38
NC_000017.10:g.73754172G>A , CM000679.1:g.73754172G>A GRCh37
NC_000017.9:g.71265767G>A NCBI36
NG_007372.1:g.41657G>A
NG_008079.1:g.12109C>T
NG_008079.2:g.12109C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000592997.6:c.1054C>T ENSP00000464765.2:p.Gln352Ter
ENST00000588479.6:c.1144C>T MANE Select ENSP00000465930.1:p.Gln382Ter
ENST00000225614.6:c.1144C>T ENSP00000225614.1:p.Gln382Ter
ENST00000586733.1:n.346C>T
ENST00000588479.5:c.1144C>T ENSP00000465930.1:p.Gln382Ter
ENST00000589643.1:n.197C>T
ENST00000592997.5:c.520C>T ENSP00000464765.1:p.Gln174Ter
NM_000154.1:c.1144C>T NP_000145.1:p.Gln382Ter
NM_000154.2:c.1144C>T MANE Select NP_000145.1:p.Gln382Ter
NM_001381985.1:c.1144C>T NP_001368914.1:p.Gln382Ter
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