Canonical Allele Identifier: CA413716526

Gene: PGK1

Linked Data

• MyVariant Identifiers: chrX:g.77378753C>T (hg19) ; chrX:g.78123256C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78123256C>T , CM000685.2:g.78123256C>T	GRCh38
NC_000023.10:g.77378753C>T , CM000685.1:g.77378753C>T	GRCh37
NC_000023.9:g.77265409C>T	NCBI36
NG_008862.1:g.24088C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373316.5:c.818C>T MANE Select	ENSP00000362413.4:p.Ala273Val
ENST00000644362.1:c.734C>T	ENSP00000496140.1:p.Ala245Val
ENST00000373316.4:c.818C>T	ENSP00000362413.4:p.Ala273Val
ENST00000474281.1:n.225C>T
NM_000291.3:c.818C>T	NP_000282.1:p.Ala273Val
NM_000291.4:c.818C>T MANE Select	NP_000282.1:p.Ala273Val