Canonical Allele Identifier: CA2481224818

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290628C= , CM000663.2:g.155290628C=	GRCh38
NC_000001.10:g.155260419C= , CM000663.1:g.155260419C=	GRCh37
NC_000001.9:g.153527043C=	NCBI36
NG_011677.1:g.15807G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1669G= MANE Select	ENSP00000339933.4:p.Gly557=
ENST00000342741.4:c.1669G=	ENSP00000339933.4:p.Gly557=
ENST00000392414.7:c.1576G=	ENSP00000376214.3:p.Gly526=
NM_000298.5:c.1669G=	NP_000289.1:p.Gly557=
NM_181871.3:c.1576G=	NP_870986.1:p.Gly526=
XM_005245266.3:c.1828G=	XP_005245323.1:p.Gly610=
XM_006711386.2:c.1477G=	XP_006711449.1:p.Gly493=
XM_011509640.1:c.1477G=	XP_011507942.1:p.Gly493=
NM_000298.6:c.1669G= MANE Select	NP_000289.1:p.Gly557=
XM_006711386.4:c.1477G=	XP_006711449.1:p.Gly493=
XM_011509640.3:c.1477G=	XP_011507942.1:p.Gly493=
NM_181871.4:c.1576G=	NP_870986.1:p.Gly526=