Canonical Allele Identifier: CA331585636
Gene: PGK1 HGNC NCBI

Linked Data

dbSNP Id: rs782606876
gnomAD v4: X-78113780-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78113780G>A , CM000685.2:g.78113780G>A GRCh38
NC_000023.10:g.77369277G>A , CM000685.1:g.77369277G>A GRCh37
NC_000023.9:g.77255933G>A NCBI36
NG_008862.1:g.14612G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373316.5:c.153G>A MANE Select ENSP00000362413.4:p.Leu51=
ENST00000644362.1:c.69G>A ENSP00000496140.1:p.Leu23=
ENST00000373316.4:c.153G>A ENSP00000362413.4:p.Leu51=
ENST00000477335.5:n.289G>A
ENST00000491291.1:n.145G>A
NM_000291.3:c.153G>A NP_000282.1:p.Leu51=
NM_000291.4:c.153G>A MANE Select NP_000282.1:p.Leu51=