Canonical Allele Identifier: CA517380768
Gene: PGK1 HGNC NCBI

Linked Data

gnomAD v4: X-78123227-C-A
MyVariant Identifiers: chrX:g.77378724C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78123227C>A , CM000685.2:g.78123227C>A GRCh38
NC_000023.10:g.77378724C>A , CM000685.1:g.77378724C>A GRCh37
NC_000023.9:g.77265380C>A NCBI36
NG_008862.1:g.24059C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373316.5:c.789C>A MANE Select ENSP00000362413.4:p.Ala263=
ENST00000644362.1:c.705C>A ENSP00000496140.1:p.Ala235=
ENST00000373316.4:c.789C>A ENSP00000362413.4:p.Ala263=
ENST00000474281.1:n.196C>A
NM_000291.3:c.789C>A NP_000282.1:p.Ala263=
NM_000291.4:c.789C>A MANE Select NP_000282.1:p.Ala263=