Canonical Allele Identifier: CA1200112621

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155295444A= , CM000663.2:g.155295444A=	GRCh38
NC_000001.10:g.155265235A= , CM000663.1:g.155265235A=	GRCh37
NC_000001.9:g.153531859A=	NCBI36
NG_011677.1:g.10991T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.500T= MANE Select	ENSP00000339933.4:p.Leu167=
ENST00000434082.3:c.308T=	ENSP00000398037.3:p.Leu103=
ENST00000342741.4:c.500T=	ENSP00000339933.4:p.Leu167=
ENST00000392414.7:c.407T=	ENSP00000376214.3:p.Leu136=
ENST00000434082.2:c.405T=	ENSP00000398037.2:n.405T=
NM_000298.5:c.500T=	NP_000289.1:p.Leu167=
NM_181871.3:c.407T=	NP_870986.1:p.Leu136=
XM_005245266.3:c.659T=	XP_005245323.1:p.Leu220=
XM_006711386.2:c.308T=	XP_006711449.1:p.Leu103=
XM_011509639.1:c.659T=	XP_011507941.1:p.Leu220=
XM_011509640.1:c.308T=	XP_011507942.1:p.Leu103=
NM_000298.6:c.500T= MANE Select	NP_000289.1:p.Leu167=
XM_006711386.4:c.308T=	XP_006711449.1:p.Leu103=
XM_011509640.3:c.308T=	XP_011507942.1:p.Leu103=
XM_017001493.1:c.500T=	XP_016856982.1:p.Leu167=
NM_181871.4:c.407T=	NP_870986.1:p.Leu136=