Canonical Allele Identifier: CA1200112223

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294609C= , CM000663.2:g.155294609C=	GRCh38
NC_000001.10:g.155264400C= , CM000663.1:g.155264400C=	GRCh37
NC_000001.9:g.153531024C=	NCBI36
NG_011677.1:g.11826G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.838G= MANE Select	ENSP00000339933.4:p.Val280=
ENST00000342741.4:c.838G=	ENSP00000339933.4:p.Val280=
ENST00000392414.7:c.745G=	ENSP00000376214.3:p.Val249=
NM_000298.5:c.838G=	NP_000289.1:p.Val280=
NM_181871.3:c.745G=	NP_870986.1:p.Val249=
XM_005245266.3:c.997G=	XP_005245323.1:p.Val333=
XM_006711386.2:c.646G=	XP_006711449.1:p.Val216=
XM_011509639.1:c.997G=	XP_011507941.1:p.Val333=
XM_011509640.1:c.646G=	XP_011507942.1:p.Val216=
NM_000298.6:c.838G= MANE Select	NP_000289.1:p.Val280=
XM_006711386.4:c.646G=	XP_006711449.1:p.Val216=
XM_011509640.3:c.646G=	XP_011507942.1:p.Val216=
XM_017001493.1:c.838G=	XP_016856982.1:p.Val280=
NM_181871.4:c.745G=	NP_870986.1:p.Val249=