Canonical Allele Identifier: CA413721542
Gene: PGK1 HGNC NCBI

Linked Data

gnomAD v4: X-78118135-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78118135G>T , CM000685.2:g.78118135G>T GRCh38
NC_000023.10:g.77373632G>T , CM000685.1:g.77373632G>T GRCh37
NC_000023.9:g.77260288G>T NCBI36
NG_008862.1:g.18967G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373316.5:c.606G>T MANE Select ENSP00000362413.4:p.Glu202Asp
ENST00000644362.1:c.522G>T ENSP00000496140.1:p.Glu174Asp
ENST00000373316.4:c.606G>T ENSP00000362413.4:p.Glu202Asp
ENST00000491291.1:n.598G>T
NM_000291.3:c.606G>T NP_000282.1:p.Glu202Asp
NM_000291.4:c.606G>T MANE Select NP_000282.1:p.Glu202Asp