Canonical Allele Identifier: CA1149117242
Gene: PKLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155290316T= , CM000663.2:g.155290316T= GRCh38
NC_000001.10:g.155260107T= , CM000663.1:g.155260107T= GRCh37
NC_000001.9:g.153526731T= NCBI36
NG_011677.1:g.16119A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342741.6:c.*256A= MANE Select ENSP00000339933.4:n.*256A=
ENST00000342741.4:c.*256A= ENSP00000339933.4:n.*256A=
ENST00000392414.7:c.*256A= ENSP00000376214.3:n.*256A=
NM_000298.5:c.*256A= NP_000289.1:n.*256A=
NM_181871.3:c.*256A= NP_870986.1:n.*256A=
XM_005245266.3:c.*256A= XP_005245323.1:n.*256A=
XM_006711386.2:c.*256A= XP_006711449.1:n.*256A=
XM_011509640.1:c.*256A= XP_011507942.1:n.*256A=
NM_000298.6:c.*256A= MANE Select NP_000289.1:n.*256A=
XM_006711386.4:c.*256A= XP_006711449.1:n.*256A=
XM_011509640.3:c.*256A= XP_011507942.1:n.*256A=
NM_181871.4:c.*256A= NP_870986.1:n.*256A=