Canonical Allele Identifier: CA413716978
Gene: PGK1 HGNC NCBI

Linked Data

dbSNP Id: rs200778983
gnomAD v2: X-77378849-C-T
gnomAD v3: X-78123352-C-T
gnomAD v4: X-78123352-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78123352C>T , CM000685.2:g.78123352C>T GRCh38
NC_000023.10:g.77378849C>T , CM000685.1:g.77378849C>T GRCh37
NC_000023.9:g.77265505C>T NCBI36
NG_008862.1:g.24184C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373316.5:c.914C>T MANE Select ENSP00000362413.4:p.Ser305Phe
ENST00000644362.1:c.830C>T ENSP00000496140.1:p.Ser277Phe
ENST00000373316.4:c.914C>T ENSP00000362413.4:p.Ser305Phe
NM_000291.3:c.914C>T NP_000282.1:p.Ser305Phe
NM_000291.4:c.914C>T MANE Select NP_000282.1:p.Ser305Phe