Canonical Allele Identifier: CA413716958
Gene: PGK1 HGNC NCBI

Linked Data

dbSNP Id: rs1557248252
gnomAD v2: X-77378845-G-A
gnomAD v4: X-78123348-G-A
MyVariant Identifiers: chrX:g.77378845G>A (hg19) chrX:g.78123348G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78123348G>A , CM000685.2:g.78123348G>A GRCh38
NC_000023.10:g.77378845G>A , CM000685.1:g.77378845G>A GRCh37
NC_000023.9:g.77265501G>A NCBI36
NG_008862.1:g.24180G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373316.5:c.910G>A MANE Select ENSP00000362413.4:p.Ala304Thr
ENST00000644362.1:c.826G>A ENSP00000496140.1:p.Ala276Thr
ENST00000373316.4:c.910G>A ENSP00000362413.4:p.Ala304Thr
NM_000291.3:c.910G>A NP_000282.1:p.Ala304Thr
NM_000291.4:c.910G>A MANE Select NP_000282.1:p.Ala304Thr
Search 100 bp 5'
Search 100 bp 3'