Canonical Allele Identifier: CA517380826
Gene: PGK1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.77378811T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78123314T>C , CM000685.2:g.78123314T>C GRCh38
NC_000023.10:g.77378811T>C , CM000685.1:g.77378811T>C GRCh37
NC_000023.9:g.77265467T>C NCBI36
NG_008862.1:g.24146T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373316.5:c.876T>C MANE Select ENSP00000362413.4:p.Phe292=
ENST00000644362.1:c.792T>C ENSP00000496140.1:p.Phe264=
ENST00000373316.4:c.876T>C ENSP00000362413.4:p.Phe292=
ENST00000474281.1:n.283T>C
NM_000291.3:c.876T>C NP_000282.1:p.Phe292=
NM_000291.4:c.876T>C MANE Select NP_000282.1:p.Phe292=
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