Canonical Allele Identifier: CA413717044
Gene: PGK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 521255
ClinVar RCV Id: RCV000623015 RCV003767825
dbSNP Id: rs1443224391
gnomAD v3: X-78123369-T-G
gnomAD v4: X-78123369-T-G
MyVariant Identifiers: chrX:g.77378866T>G (hg19) chrX:g.78123369T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78123369T>G , CM000685.2:g.78123369T>G GRCh38
NC_000023.10:g.77378866T>G , CM000685.1:g.77378866T>G GRCh37
NC_000023.9:g.77265522T>G NCBI36
NG_008862.1:g.24201T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373316.5:c.931T>G MANE Select ENSP00000362413.4:p.Trp311Gly
ENST00000644362.1:c.847T>G ENSP00000496140.1:p.Trp283Gly
ENST00000373316.4:c.931T>G ENSP00000362413.4:p.Trp311Gly
NM_000291.3:c.931T>G NP_000282.1:p.Trp311Gly
NM_000291.4:c.931T>G MANE Select NP_000282.1:p.Trp311Gly
Search 100 bp 5'
Search 100 bp 3'