Canonical Allele Identifier: CA1200112616

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155295430T= , CM000663.2:g.155295430T=	GRCh38
NC_000001.10:g.155265221T= , CM000663.1:g.155265221T=	GRCh37
NC_000001.9:g.153531845T=	NCBI36
NG_011677.1:g.11005A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.507+7A= MANE Select	ENSP00000339933.4:n.507+7A=
ENST00000434082.3:c.315+7A=	ENSP00000398037.3:n.315+7A=
ENST00000342741.4:c.507+7A=	ENSP00000339933.4:n.507+7A=
ENST00000392414.7:c.414+7A=	ENSP00000376214.3:n.414+7A=
ENST00000434082.2:c.412+7A=	ENSP00000398037.2:n.412+7A=
NM_000298.5:c.507+7A=	NP_000289.1:n.507+7A=
NM_181871.3:c.414+7A=	NP_870986.1:n.414+7A=
XM_005245266.3:c.666+7A=	XP_005245323.1:n.666+7A=
XM_006711386.2:c.315+7A=	XP_006711449.1:n.315+7A=
XM_011509639.1:c.666+7A=	XP_011507941.1:n.666+7A=
XM_011509640.1:c.315+7A=	XP_011507942.1:n.315+7A=
NM_000298.6:c.507+7A= MANE Select	NP_000289.1:n.507+7A=
XM_006711386.4:c.315+7A=	XP_006711449.1:n.315+7A=
XM_011509640.3:c.315+7A=	XP_011507942.1:n.315+7A=
XM_017001493.1:c.507+7A=	XP_016856982.1:n.507+7A=
NM_181871.4:c.414+7A=	NP_870986.1:n.414+7A=