Canonical Allele Identifier: CA413716638
Gene: PGK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2745715
ClinVar RCV Id: RCV003568178
MyVariant Identifiers: chrX:g.77378774T>G (hg19) chrX:g.78123277T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78123277T>G , CM000685.2:g.78123277T>G GRCh38
NC_000023.10:g.77378774T>G , CM000685.1:g.77378774T>G GRCh37
NC_000023.9:g.77265430T>G NCBI36
NG_008862.1:g.24109T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373316.5:c.839T>G MANE Select ENSP00000362413.4:p.Ile280Ser
ENST00000644362.1:c.755T>G ENSP00000496140.1:p.Ile252Ser
ENST00000373316.4:c.839T>G ENSP00000362413.4:p.Ile280Ser
ENST00000474281.1:n.246T>G
NM_000291.3:c.839T>G NP_000282.1:p.Ile280Ser
NM_000291.4:c.839T>G MANE Select NP_000282.1:p.Ile280Ser
Search 100 bp 5'
Search 100 bp 3'