Canonical Allele Identifier: CA413717016
Gene: PGK1 HGNC NCBI

Linked Data

gnomAD v4: X-78123363-G-A
MyVariant Identifiers: chrX:g.77378860G>A (hg19) chrX:g.78123363G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78123363G>A , CM000685.2:g.78123363G>A GRCh38
NC_000023.10:g.77378860G>A , CM000685.1:g.77378860G>A GRCh37
NC_000023.9:g.77265516G>A NCBI36
NG_008862.1:g.24195G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373316.5:c.925G>A MANE Select ENSP00000362413.4:p.Ala309Thr
ENST00000644362.1:c.841G>A ENSP00000496140.1:p.Ala281Thr
ENST00000373316.4:c.925G>A ENSP00000362413.4:p.Ala309Thr
NM_000291.3:c.925G>A NP_000282.1:p.Ala309Thr
NM_000291.4:c.925G>A MANE Select NP_000282.1:p.Ala309Thr
Search 100 bp 5'
Search 100 bp 3'