Canonical Allele Identifier: CA1200112281
Gene: PKLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155294735T= , CM000663.2:g.155294735T= GRCh38
NC_000001.10:g.155264526T= , CM000663.1:g.155264526T= GRCh37
NC_000001.9:g.153531150T= NCBI36
NG_011677.1:g.11700A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342741.6:c.712A= MANE Select ENSP00000339933.4:p.Thr238=
ENST00000342741.4:c.712A= ENSP00000339933.4:p.Thr238=
ENST00000392414.7:c.619A= ENSP00000376214.3:p.Thr207=
NM_000298.5:c.712A= NP_000289.1:p.Thr238=
NM_181871.3:c.619A= NP_870986.1:p.Thr207=
XM_005245266.3:c.871A= XP_005245323.1:p.Thr291=
XM_006711386.2:c.520A= XP_006711449.1:p.Thr174=
XM_011509639.1:c.871A= XP_011507941.1:p.Thr291=
XM_011509640.1:c.520A= XP_011507942.1:p.Thr174=
NM_000298.6:c.712A= MANE Select NP_000289.1:p.Thr238=
XM_006711386.4:c.520A= XP_006711449.1:p.Thr174=
XM_011509640.3:c.520A= XP_011507942.1:p.Thr174=
XM_017001493.1:c.712A= XP_016856982.1:p.Thr238=
NM_181871.4:c.619A= NP_870986.1:p.Thr207=