Canonical Allele Identifier: CA413721480
Gene: PGK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78118109C>A , CM000685.2:g.78118109C>A GRCh38
NC_000023.10:g.77373606C>A , CM000685.1:g.77373606C>A GRCh37
NC_000023.9:g.77260262C>A NCBI36
NG_008862.1:g.18941C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373316.5:c.580C>A MANE Select ENSP00000362413.4:p.Leu194Met
ENST00000644362.1:c.496C>A ENSP00000496140.1:p.Leu166Met
ENST00000373316.4:c.580C>A ENSP00000362413.4:p.Leu194Met
ENST00000491291.1:n.572C>A
NM_000291.3:c.580C>A NP_000282.1:p.Leu194Met
NM_000291.4:c.580C>A MANE Select NP_000282.1:p.Leu194Met