Canonical Allele Identifier: CA120825
Gene: PGK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9947
ClinVar RCV Id: RCV000010625
dbSNP Id: rs137852532

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78117367G>T , CM000685.2:g.78117367G>T GRCh38
NC_000023.10:g.77372864G>T , CM000685.1:g.77372864G>T GRCh37
NC_000023.9:g.77259520G>T NCBI36
NG_008862.1:g.18199G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000373316.5:c.473G>T MANE Select ENSP00000362413.4:p.Gly158Val
ENST00000644362.1:c.389G>T ENSP00000496140.1:p.Gly130Val
ENST00000373316.4:c.473G>T ENSP00000362413.4:p.Gly158Val
ENST00000491291.1:n.465G>T
NM_000291.3:c.473G>T NP_000282.1:p.Gly158Val
NM_000291.4:c.473G>T MANE Select NP_000282.1:p.Gly158Val