Canonical Allele Identifier: CA10459625
Gene: PGK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2081984
ClinVar RCV Id: RCV002995754 RCV004526954
dbSNP Id: rs781875982
ExAC: X:77369270 T / A
gnomAD v2: X-77369270-T-A
gnomAD v4: X-78113773-T-A
MyVariant Identifiers: chrX:g.77369270T>A (hg19) chrX:g.78113773T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78113773T>A , CM000685.2:g.78113773T>A GRCh38
NC_000023.10:g.77369270T>A , CM000685.1:g.77369270T>A GRCh37
NC_000023.9:g.77255926T>A NCBI36
NG_008862.1:g.14605T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373316.5:c.146T>A MANE Select ENSP00000362413.4:p.Phe49Tyr
ENST00000644362.1:c.62T>A ENSP00000496140.1:p.Phe21Tyr
ENST00000373316.4:c.146T>A ENSP00000362413.4:p.Phe49Tyr
ENST00000477335.5:n.282T>A
ENST00000491291.1:n.138T>A
NM_000291.3:c.146T>A NP_000282.1:p.Phe49Tyr
NM_000291.4:c.146T>A MANE Select NP_000282.1:p.Phe49Tyr
Search 100 bp 5'
Search 100 bp 3'