Canonical Allele Identifier: CA915837
Gene: PIGK HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.77161411G>A
GRCh37 chr1:g.77627096G>A
gnomAD v2:
1:77627096 G / A
gnomAD v3:
1:77161411 G / A
gnomAD v4:
chr1-77161411-G-A
Joint Max Group AF 0.99836251 (NFE)
Genomes Max Group AF 0.99364176 (NFE)
Exomes Max Group AF 0.99831014 (NFE)
ClinVar RCV:
RCV001688803
RCV001788788
ClinVar Variation:
1280784
dbSNP:
839825
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.77161411G>A , CM000663.2:g.77161411G>A GRCh38
NC_000001.10:g.77627096G>A , CM000663.1:g.77627096G>A GRCh37
NC_000001.9:g.77399684G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000370812.8:c.703-6C>T MANE Select ENSP00000359848.3:n.703-6C>T
ENST00000359130.1:c.703-6C>T ENSP00000352041.1:n.703-6C>T
ENST00000370812.7:c.703-6C>T ENSP00000359848.3:n.703-6C>T
ENST00000445065.5:c.421-6C>T ENSP00000388854.1:n.421-6C>T
ENST00000478391.1:n.499-6C>T
ENST00000487906.5:c.276-6C>T ENSP00000474518.1:n.276-6C>T
NM_005482.2:c.703-6C>T NP_005473.1:n.703-6C>T
NM_005482.3:c.703-6C>T MANE Select NP_005473.1:n.703-6C>T
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