Canonical Allele Identifier: CA1144229
Gene: PKLR HGNC NCBI

Linked Data

ClinVar Variation Id: 280113
dbSNP Id: rs201953584

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155294726C>A , CM000663.2:g.155294726C>A GRCh38
NC_000001.10:g.155264517C>A , CM000663.1:g.155264517C>A GRCh37
NC_000001.9:g.153531141C>A NCBI36
NG_011677.1:g.11709G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342741.6:c.721G>T MANE Select ENSP00000339933.4:p.Glu241Ter
ENST00000342741.4:c.721G>T ENSP00000339933.4:p.Glu241Ter
ENST00000392414.7:c.628G>T ENSP00000376214.3:p.Glu210Ter
NM_000298.5:c.721G>T NP_000289.1:p.Glu241Ter
NM_181871.3:c.628G>T NP_870986.1:p.Glu210Ter
XM_005245266.3:c.880G>T XP_005245323.1:p.Glu294Ter
XM_006711386.2:c.529G>T XP_006711449.1:p.Glu177Ter
XM_011509639.1:c.880G>T XP_011507941.1:p.Glu294Ter
XM_011509640.1:c.529G>T XP_011507942.1:p.Glu177Ter
NM_000298.6:c.721G>T MANE Select NP_000289.1:p.Glu241Ter
XM_006711386.4:c.529G>T XP_006711449.1:p.Glu177Ter
XM_011509640.3:c.529G>T XP_011507942.1:p.Glu177Ter
XM_017001493.1:c.721G>T XP_016856982.1:p.Glu241Ter
NM_181871.4:c.628G>T NP_870986.1:p.Glu210Ter