Canonical Allele Identifier: CA215073
Gene: PKLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1506
dbSNP Id: rs118204083

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155295457G>A , CM000663.2:g.155295457G>A GRCh38
NC_000001.10:g.155265248G>A , CM000663.1:g.155265248G>A GRCh37
NC_000001.9:g.153531872G>A NCBI36
NG_011677.1:g.10978C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342741.6:c.487C>T MANE Select ENSP00000339933.4:p.Arg163Cys
ENST00000434082.3:c.295C>T ENSP00000398037.3:p.Arg99Cys
ENST00000342741.4:c.487C>T ENSP00000339933.4:p.Arg163Cys
ENST00000392414.7:c.394C>T ENSP00000376214.3:p.Arg132Cys
ENST00000434082.2:c.392C>T ENSP00000398037.2:n.392C>T
NM_000298.5:c.487C>T NP_000289.1:p.Arg163Cys
NM_181871.3:c.394C>T NP_870986.1:p.Arg132Cys
XM_005245266.3:c.646C>T XP_005245323.1:p.Arg216Cys
XM_006711386.2:c.295C>T XP_006711449.1:p.Arg99Cys
XM_011509639.1:c.646C>T XP_011507941.1:p.Arg216Cys
XM_011509640.1:c.295C>T XP_011507942.1:p.Arg99Cys
NM_000298.6:c.487C>T MANE Select NP_000289.1:p.Arg163Cys
XM_006711386.4:c.295C>T XP_006711449.1:p.Arg99Cys
XM_011509640.3:c.295C>T XP_011507942.1:p.Arg99Cys
XM_017001493.1:c.487C>T XP_016856982.1:p.Arg163Cys
NM_181871.4:c.394C>T NP_870986.1:p.Arg132Cys