Canonical Allele Identifier: CA1200112190

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294504C= , CM000663.2:g.155294504C=	GRCh38
NC_000001.10:g.155264295C= , CM000663.1:g.155264295C=	GRCh37
NC_000001.9:g.153530919C=	NCBI36
NG_011677.1:g.11931G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.943G= MANE Select	ENSP00000339933.4:p.Glu315=
ENST00000342741.4:c.943G=	ENSP00000339933.4:p.Glu315=
ENST00000392414.7:c.850G=	ENSP00000376214.3:p.Glu284=
NM_000298.5:c.943G=	NP_000289.1:p.Glu315=
NM_181871.3:c.850G=	NP_870986.1:p.Glu284=
XM_005245266.3:c.1102G=	XP_005245323.1:p.Glu368=
XM_006711386.2:c.751G=	XP_006711449.1:p.Glu251=
XM_011509639.1:c.1102G=	XP_011507941.1:p.Glu368=
XM_011509640.1:c.751G=	XP_011507942.1:p.Glu251=
NM_000298.6:c.943G= MANE Select	NP_000289.1:p.Glu315=
XM_006711386.4:c.751G=	XP_006711449.1:p.Glu251=
XM_011509640.3:c.751G=	XP_011507942.1:p.Glu251=
XM_017001493.1:c.943G=	XP_016856982.1:p.Glu315=
NM_181871.4:c.850G=	NP_870986.1:p.Glu284=