Canonical Allele Identifier: CA642709308

Gene: PGK1

Linked Data

• dbSNP Id: rs782462747
• gnomAD v2: X-77373484-G-C
• gnomAD v3: X-78117987-G-C
• gnomAD v4: X-78117987-G-C
• MyVariant Identifiers: chrX:g.77373484G>C (hg19) ; chrX:g.78117987G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78117987G>C , CM000685.2:g.78117987G>C	GRCh38
NC_000023.10:g.77373484G>C , CM000685.1:g.77373484G>C	GRCh37
NC_000023.9:g.77260140G>C	NCBI36
NG_008862.1:g.18819G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373316.5:c.522-64G>C MANE Select	ENSP00000362413.4:n.522-64G>C
ENST00000644362.1:c.438-64G>C	ENSP00000496140.1:n.438-64G>C
ENST00000373316.4:c.522-64G>C	ENSP00000362413.4:n.522-64G>C
ENST00000491291.1:n.514-64G>C
NM_000291.3:c.522-64G>C	NP_000282.1:n.522-64G>C
NM_000291.4:c.522-64G>C MANE Select	NP_000282.1:n.522-64G>C