Canonical Allele Identifier: CA413716764
Gene: PGK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78123306G>C , CM000685.2:g.78123306G>C GRCh38
NC_000023.10:g.77378803G>C , CM000685.1:g.77378803G>C GRCh37
NC_000023.9:g.77265459G>C NCBI36
NG_008862.1:g.24138G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373316.5:c.868G>C MANE Select ENSP00000362413.4:p.Asp290His
ENST00000644362.1:c.784G>C ENSP00000496140.1:p.Asp262His
ENST00000373316.4:c.868G>C ENSP00000362413.4:p.Asp290His
ENST00000474281.1:n.275G>C
NM_000291.3:c.868G>C NP_000282.1:p.Asp290His
NM_000291.4:c.868G>C MANE Select NP_000282.1:p.Asp290His