Canonical Allele Identifier: CA517473257
Gene: PGK1 HGNC NCBI

Linked Data

dbSNP Id: rs1557247109
gnomAD v2: X-77369280-C-T
gnomAD v4: X-78113783-C-T
MyVariant Identifiers: chrX:g.77369280C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78113783C>T , CM000685.2:g.78113783C>T GRCh38
NC_000023.10:g.77369280C>T , CM000685.1:g.77369280C>T GRCh37
NC_000023.9:g.77255936C>T NCBI36
NG_008862.1:g.14615C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373316.5:c.156C>T MANE Select ENSP00000362413.4:p.Asp52=
ENST00000644362.1:c.72C>T ENSP00000496140.1:p.Asp24=
ENST00000373316.4:c.156C>T ENSP00000362413.4:p.Asp52=
ENST00000477335.5:n.292C>T
ENST00000491291.1:n.148C>T
NM_000291.3:c.156C>T NP_000282.1:p.Asp52=
NM_000291.4:c.156C>T MANE Select NP_000282.1:p.Asp52=
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