Canonical Allele Identifier: CA10459701
Gene: PGK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2175500
ClinVar RCV Id: RCV002579272
dbSNP Id: rs201024012
ExAC: X:77372809 G / A
gnomAD v2: X-77372809-G-A
gnomAD v3: X-78117312-G-A
gnomAD v4: X-78117312-G-A
MyVariant Identifiers: chrX:g.77372809G>A (hg19) chrX:g.78117312G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78117312G>A , CM000685.2:g.78117312G>A GRCh38
NC_000023.10:g.77372809G>A , CM000685.1:g.77372809G>A GRCh37
NC_000023.9:g.77259465G>A NCBI36
NG_008862.1:g.18144G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000373316.5:c.418G>A MANE Select ENSP00000362413.4:p.Val140Ile
ENST00000644362.1:c.334G>A ENSP00000496140.1:p.Val112Ile
ENST00000373316.4:c.418G>A ENSP00000362413.4:p.Val140Ile
ENST00000491291.1:n.410G>A
NM_000291.3:c.418G>A NP_000282.1:p.Val140Ile
NM_000291.4:c.418G>A MANE Select NP_000282.1:p.Val140Ile
Search 100 bp 5'
Search 100 bp 3'