Canonical Allele Identifier: CA10459772
Gene: PGK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3007087
ClinVar RCV Id: RCV003868726
dbSNP Id: rs781787236
ExAC: X:77378746 T / A
gnomAD v2: X-77378746-T-A
gnomAD v4: X-78123249-T-A
MyVariant Identifiers: chrX:g.77378746T>A (hg19) chrX:g.78123249T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78123249T>A , CM000685.2:g.78123249T>A GRCh38
NC_000023.10:g.77378746T>A , CM000685.1:g.77378746T>A GRCh37
NC_000023.9:g.77265402T>A NCBI36
NG_008862.1:g.24081T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000373316.5:c.811T>A MANE Select ENSP00000362413.4:p.Ser271Thr
ENST00000644362.1:c.727T>A ENSP00000496140.1:p.Ser243Thr
ENST00000373316.4:c.811T>A ENSP00000362413.4:p.Ser271Thr
ENST00000474281.1:n.218T>A
NM_000291.3:c.811T>A NP_000282.1:p.Ser271Thr
NM_000291.4:c.811T>A MANE Select NP_000282.1:p.Ser271Thr
Search 100 bp 5'
Search 100 bp 3'