Canonical Allele Identifier: CA517379945

Gene: PGK1

Linked Data

• gnomAD v4: X-78118129-C-T
• MyVariant Identifiers: chrX:g.77373626C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78118129C>T , CM000685.2:g.78118129C>T	GRCh38
NC_000023.10:g.77373626C>T , CM000685.1:g.77373626C>T	GRCh37
NC_000023.9:g.77260282C>T	NCBI36
NG_008862.1:g.18961C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373316.5:c.600C>T MANE Select	ENSP00000362413.4:p.Ala200=
ENST00000644362.1:c.516C>T	ENSP00000496140.1:p.Ala172=
ENST00000373316.4:c.600C>T	ENSP00000362413.4:p.Ala200=
ENST00000491291.1:n.592C>T
NM_000291.3:c.600C>T	NP_000282.1:p.Ala200=
NM_000291.4:c.600C>T MANE Select	NP_000282.1:p.Ala200=