Canonical Allele Identifier: CA1200112243

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294651C= , CM000663.2:g.155294651C=	GRCh38
NC_000001.10:g.155264442C= , CM000663.1:g.155264442C=	GRCh37
NC_000001.9:g.153531066C=	NCBI36
NG_011677.1:g.11784G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.796G= MANE Select	ENSP00000339933.4:p.Glu266=
ENST00000342741.4:c.796G=	ENSP00000339933.4:p.Glu266=
ENST00000392414.7:c.703G=	ENSP00000376214.3:p.Glu235=
NM_000298.5:c.796G=	NP_000289.1:p.Glu266=
NM_181871.3:c.703G=	NP_870986.1:p.Glu235=
XM_005245266.3:c.955G=	XP_005245323.1:p.Glu319=
XM_006711386.2:c.604G=	XP_006711449.1:p.Glu202=
XM_011509639.1:c.955G=	XP_011507941.1:p.Glu319=
XM_011509640.1:c.604G=	XP_011507942.1:p.Glu202=
NM_000298.6:c.796G= MANE Select	NP_000289.1:p.Glu266=
XM_006711386.4:c.604G=	XP_006711449.1:p.Glu202=
XM_011509640.3:c.604G=	XP_011507942.1:p.Glu202=
XM_017001493.1:c.796G=	XP_016856982.1:p.Glu266=
NM_181871.4:c.703G=	NP_870986.1:p.Glu235=