Canonical Allele Identifier: CA3217832054

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8811701A= , CM000678.2:g.8811701A=	GRCh38
NC_000016.9:g.8905558A= , CM000678.1:g.8905558A=	GRCh37
NC_000016.8:g.8813059A=	NCBI36
NG_009209.1:g.18889A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000303.3:c.511A= MANE Select	NP_000294.1:p.Thr171=
ENST00000268261.9:c.511A= MANE Select	ENSP00000268261.4:p.Thr171=
NM_000303.2:c.511A=	NP_000294.1:p.Thr171=
ENST00000268261.8:c.511A=	ENSP00000268261.4:p.Thr171=
ENST00000562318.5:c.*233A=	ENSP00000454395.1:n.*233A=
ENST00000564069.1:c.478A=
ENST00000565221.5:c.*129A=	ENSP00000457932.1:n.*129A=
ENST00000566540.5:c.*133A=	ENSP00000454284.1:n.*133A=
ENST00000566604.5:c.*51A=	ENSP00000456774.1:n.*51A=
ENST00000566983.5:c.430A=	ENSP00000457956.1:p.Thr144=
ENST00000567697.1:n.3679A=
ENST00000567697.2:n.3679A=
ENST00000569958.5:c.238A=	ENSP00000456302.1:p.Thr80=
ENST00000570076.5:c.242A=	ENSP00000456961.1:p.His81=
ENST00000570134.5:c.*133A=	ENSP00000456275.1:n.*133A=
ENST00000682008.1:c.511A=	ENSP00000507849.1:p.Thr171=
ENST00000682393.1:c.*129A=	ENSP00000506774.1:n.*129A=
ENST00000683094.1:c.*133A=	ENSP00000508230.1:n.*133A=
ENST00000683274.1:c.*51A=	ENSP00000507262.1:n.*51A=
ENST00000683435.1:c.*407A=	ENSP00000508092.1:n.*407A=
XM_005255372.3:c.511A=	XP_005255429.1:p.Thr171=
XM_005255373.3:c.262A=	XP_005255430.1:p.Thr88=
XM_005255374.3:c.262A=	XP_005255431.1:p.Thr88=
XM_005255374.4:c.262A=	XP_005255431.1:p.Thr88=
XM_011522538.1:c.511A=	XP_011520840.1:p.Thr171=
XM_011522539.1:c.136A=	XP_011520841.1:p.Thr46=