Canonical Allele Identifier: CA413718538

Gene: PGK1

Linked Data

• gnomAD v4: X-78113742-A-G
• MyVariant Identifiers: chrX:g.77369239A>G (hg19) ; chrX:g.78113742A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78113742A>G , CM000685.2:g.78113742A>G	GRCh38
NC_000023.10:g.77369239A>G , CM000685.1:g.77369239A>G	GRCh37
NC_000023.9:g.77255895A>G	NCBI36
NG_008862.1:g.14574A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373316.5:c.117-2A>G MANE Select	ENSP00000362413.4:n.117-2A>G
ENST00000644362.1:c.33-2A>G	ENSP00000496140.1:n.33-2A>G
ENST00000373316.4:c.117-2A>G	ENSP00000362413.4:n.117-2A>G
ENST00000477335.5:n.253-2A>G
ENST00000491291.1:n.109-2A>G
NM_000291.3:c.117-2A>G	NP_000282.1:n.117-2A>G
NM_000291.4:c.117-2A>G MANE Select	NP_000282.1:n.117-2A>G