Canonical Allele Identifier: CA2481224734
Gene: PKLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155290381T= , CM000663.2:g.155290381T= GRCh38
NC_000001.10:g.155260172T= , CM000663.1:g.155260172T= GRCh37
NC_000001.9:g.153526796T= NCBI36
NG_011677.1:g.16054A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342741.6:c.*191A= MANE Select ENSP00000339933.4:n.*191A=
ENST00000342741.4:c.*191A= ENSP00000339933.4:n.*191A=
ENST00000392414.7:c.*191A= ENSP00000376214.3:n.*191A=
NM_000298.5:c.*191A= NP_000289.1:n.*191A=
NM_181871.3:c.*191A= NP_870986.1:n.*191A=
XM_005245266.3:c.*191A= XP_005245323.1:n.*191A=
XM_006711386.2:c.*191A= XP_006711449.1:n.*191A=
XM_011509640.1:c.*191A= XP_011507942.1:n.*191A=
NM_000298.6:c.*191A= MANE Select NP_000289.1:n.*191A=
XM_006711386.4:c.*191A= XP_006711449.1:n.*191A=
XM_011509640.3:c.*191A= XP_011507942.1:n.*191A=
NM_181871.4:c.*191A= NP_870986.1:n.*191A=