Canonical Allele Identifier: CA1200112320
Gene: PKLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155294811A= , CM000663.2:g.155294811A= GRCh38
NC_000001.10:g.155264602A= , CM000663.1:g.155264602A= GRCh37
NC_000001.9:g.153531226A= NCBI36
NG_011677.1:g.11624T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342741.6:c.695-59T= MANE Select ENSP00000339933.4:n.695-59T=
ENST00000342741.4:c.695-59T= ENSP00000339933.4:n.695-59T=
ENST00000392414.7:c.602-59T= ENSP00000376214.3:n.602-59T=
NM_000298.5:c.695-59T= NP_000289.1:n.695-59T=
NM_181871.3:c.602-59T= NP_870986.1:n.602-59T=
XM_005245266.3:c.854-59T= XP_005245323.1:n.854-59T=
XM_006711386.2:c.503-59T= XP_006711449.1:n.503-59T=
XM_011509639.1:c.854-59T= XP_011507941.1:n.854-59T=
XM_011509640.1:c.503-59T= XP_011507942.1:n.503-59T=
NM_000298.6:c.695-59T= MANE Select NP_000289.1:n.695-59T=
XM_006711386.4:c.503-59T= XP_006711449.1:n.503-59T=
XM_011509640.3:c.503-59T= XP_011507942.1:n.503-59T=
XM_017001493.1:c.695-59T= XP_016856982.1:n.695-59T=
NM_181871.4:c.602-59T= NP_870986.1:n.602-59T=