Canonical Allele Identifier: CA30904535
Gene: PKLR HGNC NCBI

Linked Data

dbSNP Id: rs929087559

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155295447A>G , CM000663.2:g.155295447A>G GRCh38
NC_000001.10:g.155265238A>G , CM000663.1:g.155265238A>G GRCh37
NC_000001.9:g.153531862A>G NCBI36
NG_011677.1:g.10988T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342741.6:c.497T>C MANE Select ENSP00000339933.4:p.Ile166Thr
ENST00000434082.3:c.305T>C ENSP00000398037.3:p.Ile102Thr
ENST00000342741.4:c.497T>C ENSP00000339933.4:p.Ile166Thr
ENST00000392414.7:c.404T>C ENSP00000376214.3:p.Ile135Thr
ENST00000434082.2:c.402T>C ENSP00000398037.2:n.402T>C
NM_000298.5:c.497T>C NP_000289.1:p.Ile166Thr
NM_181871.3:c.404T>C NP_870986.1:p.Ile135Thr
XM_005245266.3:c.656T>C XP_005245323.1:p.Ile219Thr
XM_006711386.2:c.305T>C XP_006711449.1:p.Ile102Thr
XM_011509639.1:c.656T>C XP_011507941.1:p.Ile219Thr
XM_011509640.1:c.305T>C XP_011507942.1:p.Ile102Thr
NM_000298.6:c.497T>C MANE Select NP_000289.1:p.Ile166Thr
XM_006711386.4:c.305T>C XP_006711449.1:p.Ile102Thr
XM_011509640.3:c.305T>C XP_011507942.1:p.Ile102Thr
XM_017001493.1:c.497T>C XP_016856982.1:p.Ile166Thr
NM_181871.4:c.404T>C NP_870986.1:p.Ile135Thr