Canonical Allele Identifier: CA342755442
Gene: PKLR HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000342741.6:c.497T>G MANE Select ENSP00000339933.4:p.Ile166Ser
ENST00000434082.3:c.305T>G ENSP00000398037.3:p.Ile102Ser
ENST00000342741.4:c.497T>G ENSP00000339933.4:p.Ile166Ser
ENST00000392414.7:c.404T>G ENSP00000376214.3:p.Ile135Ser
ENST00000434082.2:c.402T>G ENSP00000398037.2:n.402T>G
NM_000298.5:c.497T>G NP_000289.1:p.Ile166Ser
NM_181871.3:c.404T>G NP_870986.1:p.Ile135Ser
XM_005245266.3:c.656T>G XP_005245323.1:p.Ile219Ser
XM_006711386.2:c.305T>G XP_006711449.1:p.Ile102Ser
XM_011509639.1:c.656T>G XP_011507941.1:p.Ile219Ser
XM_011509640.1:c.305T>G XP_011507942.1:p.Ile102Ser
NM_000298.6:c.497T>G MANE Select NP_000289.1:p.Ile166Ser
XM_006711386.4:c.305T>G XP_006711449.1:p.Ile102Ser
XM_011509640.3:c.305T>G XP_011507942.1:p.Ile102Ser
XM_017001493.1:c.497T>G XP_016856982.1:p.Ile166Ser
NM_181871.4:c.404T>G NP_870986.1:p.Ile135Ser