Canonical Allele Identifier: CA1200112625
Gene: PKLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155295450C= , CM000663.2:g.155295450C= GRCh38
NC_000001.10:g.155265241C= , CM000663.1:g.155265241C= GRCh37
NC_000001.9:g.153531865C= NCBI36
NG_011677.1:g.10985G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342741.6:c.494G= MANE Select ENSP00000339933.4:p.Gly165=
ENST00000434082.3:c.302G= ENSP00000398037.3:p.Gly101=
ENST00000342741.4:c.494G= ENSP00000339933.4:p.Gly165=
ENST00000392414.7:c.401G= ENSP00000376214.3:p.Gly134=
ENST00000434082.2:c.399G= ENSP00000398037.2:n.399G=
NM_000298.5:c.494G= NP_000289.1:p.Gly165=
NM_181871.3:c.401G= NP_870986.1:p.Gly134=
XM_005245266.3:c.653G= XP_005245323.1:p.Gly218=
XM_006711386.2:c.302G= XP_006711449.1:p.Gly101=
XM_011509639.1:c.653G= XP_011507941.1:p.Gly218=
XM_011509640.1:c.302G= XP_011507942.1:p.Gly101=
NM_000298.6:c.494G= MANE Select NP_000289.1:p.Gly165=
XM_006711386.4:c.302G= XP_006711449.1:p.Gly101=
XM_011509640.3:c.302G= XP_011507942.1:p.Gly101=
XM_017001493.1:c.494G= XP_016856982.1:p.Gly165=
NM_181871.4:c.401G= NP_870986.1:p.Gly134=