Canonical Allele Identifier: CA1200112193

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294508T= , CM000663.2:g.155294508T=	GRCh38
NC_000001.10:g.155264299T= , CM000663.1:g.155264299T=	GRCh37
NC_000001.9:g.153530923T=	NCBI36
NG_011677.1:g.11927A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.939A= MANE Select	ENSP00000339933.4:p.Lys313=
ENST00000342741.4:c.939A=	ENSP00000339933.4:p.Lys313=
ENST00000392414.7:c.846A=	ENSP00000376214.3:p.Lys282=
NM_000298.5:c.939A=	NP_000289.1:p.Lys313=
NM_181871.3:c.846A=	NP_870986.1:p.Lys282=
XM_005245266.3:c.1098A=	XP_005245323.1:p.Lys366=
XM_006711386.2:c.747A=	XP_006711449.1:p.Lys249=
XM_011509639.1:c.1098A=	XP_011507941.1:p.Lys366=
XM_011509640.1:c.747A=	XP_011507942.1:p.Lys249=
NM_000298.6:c.939A= MANE Select	NP_000289.1:p.Lys313=
XM_006711386.4:c.747A=	XP_006711449.1:p.Lys249=
XM_011509640.3:c.747A=	XP_011507942.1:p.Lys249=
XM_017001493.1:c.939A=	XP_016856982.1:p.Lys313=
NM_181871.4:c.846A=	NP_870986.1:p.Lys282=