Canonical Allele Identifier: CA1200112672

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155295559C= , CM000663.2:g.155295559C=	GRCh38
NC_000001.10:g.155265350C= , CM000663.1:g.155265350C=	GRCh37
NC_000001.9:g.153531974C=	NCBI36
NG_011677.1:g.10876G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000342741.6:c.385G= MANE Select	ENSP00000339933.4:p.Glu129=
ENST00000434082.3:c.193G=	ENSP00000398037.3:p.Glu65=
ENST00000342741.4:c.385G=	ENSP00000339933.4:p.Glu129=
ENST00000392414.7:c.292G=	ENSP00000376214.3:p.Glu98=
ENST00000434082.2:c.290G=	ENSP00000398037.2:n.290G=
NM_000298.5:c.385G=	NP_000289.1:p.Glu129=
NM_181871.3:c.292G=	NP_870986.1:p.Glu98=
XM_005245266.3:c.544G=	XP_005245323.1:p.Glu182=
XM_006711386.2:c.193G=	XP_006711449.1:p.Glu65=
XM_011509639.1:c.544G=	XP_011507941.1:p.Glu182=
XM_011509640.1:c.193G=	XP_011507942.1:p.Glu65=
NM_000298.6:c.385G= MANE Select	NP_000289.1:p.Glu129=
XM_006711386.4:c.193G=	XP_006711449.1:p.Glu65=
XM_011509640.3:c.193G=	XP_011507942.1:p.Glu65=
XM_017001493.1:c.385G=	XP_016856982.1:p.Glu129=
NM_181871.4:c.292G=	NP_870986.1:p.Glu98=