Canonical Allele Identifier: CA2481224822

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290645A= , CM000663.2:g.155290645A=	GRCh38
NC_000001.10:g.155260436A= , CM000663.1:g.155260436A=	GRCh37
NC_000001.9:g.153527060A=	NCBI36
NG_011677.1:g.15790T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1652T= MANE Select	ENSP00000339933.4:p.Leu551=
ENST00000342741.4:c.1652T=	ENSP00000339933.4:p.Leu551=
ENST00000392414.7:c.1559T=	ENSP00000376214.3:p.Leu520=
NM_000298.5:c.1652T=	NP_000289.1:p.Leu551=
NM_181871.3:c.1559T=	NP_870986.1:p.Leu520=
XM_005245266.3:c.1811T=	XP_005245323.1:p.Leu604=
XM_006711386.2:c.1460T=	XP_006711449.1:p.Leu487=
XM_011509640.1:c.1460T=	XP_011507942.1:p.Leu487=
NM_000298.6:c.1652T= MANE Select	NP_000289.1:p.Leu551=
XM_006711386.4:c.1460T=	XP_006711449.1:p.Leu487=
XM_011509640.3:c.1460T=	XP_011507942.1:p.Leu487=
NM_181871.4:c.1559T=	NP_870986.1:p.Leu520=