Canonical Allele Identifier: CA331586163

Gene: PGK1

Linked Data

• dbSNP Id: rs782769426
• gnomAD v2: X-77378935-T-C
• gnomAD v3: X-78123438-T-C
• gnomAD v4: X-78123438-T-C
• MyVariant Identifiers: chrX:g.77378935T>C (hg19) ; chrX:g.78123438T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78123438T>C , CM000685.2:g.78123438T>C	GRCh38
NC_000023.10:g.77378935T>C , CM000685.1:g.77378935T>C	GRCh37
NC_000023.9:g.77265591T>C	NCBI36
NG_008862.1:g.24270T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373316.5:c.936+64T>C MANE Select	ENSP00000362413.4:n.936+64T>C
ENST00000644362.1:c.852+64T>C	ENSP00000496140.1:n.852+64T>C
ENST00000373316.4:c.936+64T>C	ENSP00000362413.4:n.936+64T>C
NM_000291.3:c.936+64T>C	NP_000282.1:n.936+64T>C
NM_000291.4:c.936+64T>C MANE Select	NP_000282.1:n.936+64T>C