Canonical Allele Identifier: CA413718784
Gene: PGK1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.77369271C>G (hg19) chrX:g.78113774C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78113774C>G , CM000685.2:g.78113774C>G GRCh38
NC_000023.10:g.77369271C>G , CM000685.1:g.77369271C>G GRCh37
NC_000023.9:g.77255927C>G NCBI36
NG_008862.1:g.14606C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373316.5:c.147C>G MANE Select ENSP00000362413.4:p.Phe49Leu
ENST00000644362.1:c.63C>G ENSP00000496140.1:p.Phe21Leu
ENST00000373316.4:c.147C>G ENSP00000362413.4:p.Phe49Leu
ENST00000477335.5:n.283C>G
ENST00000491291.1:n.139C>G
NM_000291.3:c.147C>G NP_000282.1:p.Phe49Leu
NM_000291.4:c.147C>G MANE Select NP_000282.1:p.Phe49Leu
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