Canonical Allele Identifier: CA331585642
Gene: PGK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2999258
ClinVar RCV Id: RCV003851889
dbSNP Id: rs782415977
gnomAD v4: X-78113892-C-T
MyVariant Identifiers: chrX:g.77369389C>T (hg19) chrX:g.78113892C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78113892C>T , CM000685.2:g.78113892C>T GRCh38
NC_000023.10:g.77369389C>T , CM000685.1:g.77369389C>T GRCh37
NC_000023.9:g.77256045C>T NCBI36
NG_008862.1:g.14724C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373316.5:c.265C>T MANE Select ENSP00000362413.4:p.Leu89=
ENST00000644362.1:c.181C>T ENSP00000496140.1:p.Leu61=
ENST00000373316.4:c.265C>T ENSP00000362413.4:p.Leu89=
ENST00000491291.1:n.257C>T
NM_000291.3:c.265C>T NP_000282.1:p.Leu89=
NM_000291.4:c.265C>T MANE Select NP_000282.1:p.Leu89=
Search 100 bp 5'
Search 100 bp 3'