Canonical Allele Identifier: CA331585641
Gene: PGK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1947643
ClinVar RCV Id: RCV002663485
dbSNP Id: rs201217519
gnomAD v2: X-77369361-G-A
gnomAD v4: X-78113864-G-A
MyVariant Identifiers: chrX:g.77369361G>A (hg19) chrX:g.78113864G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78113864G>A , CM000685.2:g.78113864G>A GRCh38
NC_000023.10:g.77369361G>A , CM000685.1:g.77369361G>A GRCh37
NC_000023.9:g.77256017G>A NCBI36
NG_008862.1:g.14696G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373316.5:c.237G>A MANE Select ENSP00000362413.4:p.Glu79=
ENST00000644362.1:c.153G>A ENSP00000496140.1:p.Glu51=
ENST00000373316.4:c.237G>A ENSP00000362413.4:p.Glu79=
ENST00000491291.1:n.229G>A
NM_000291.3:c.237G>A NP_000282.1:p.Glu79=
NM_000291.4:c.237G>A MANE Select NP_000282.1:p.Glu79=
Search 100 bp 5'
Search 100 bp 3'