Canonical Allele Identifier: CA10459787
Gene: PGK1 HGNC NCBI

Linked Data

dbSNP Id: rs201707198
ExAC: X:77378833 C / G
gnomAD v2: X-77378833-C-G
gnomAD v4: X-78123336-C-G
MyVariant Identifiers: chrX:g.77378833C>G (hg19) chrX:g.78123336C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78123336C>G , CM000685.2:g.78123336C>G GRCh38
NC_000023.10:g.77378833C>G , CM000685.1:g.77378833C>G GRCh37
NC_000023.9:g.77265489C>G NCBI36
NG_008862.1:g.24168C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373316.5:c.898C>G MANE Select ENSP00000362413.4:p.Gln300Glu
ENST00000644362.1:c.814C>G ENSP00000496140.1:p.Gln272Glu
ENST00000373316.4:c.898C>G ENSP00000362413.4:p.Gln300Glu
ENST00000474281.1:n.305C>G
NM_000291.3:c.898C>G NP_000282.1:p.Gln300Glu
NM_000291.4:c.898C>G MANE Select NP_000282.1:p.Gln300Glu
Search 100 bp 5'
Search 100 bp 3'