Canonical Allele Identifier: CA1144147
Gene: PKLR HGNC NCBI

Linked Data

ClinVar Variation Id: 874618
ClinVar RCV Id: RCV001097709
dbSNP Id: rs763964110

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155294385C>A , CM000663.2:g.155294385C>A GRCh38
NC_000001.10:g.155264176C>A , CM000663.1:g.155264176C>A GRCh37
NC_000001.9:g.153530800C>A NCBI36
NG_011677.1:g.12050G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342741.6:c.966G>T MANE Select ENSP00000339933.4:p.Arg322Ser
ENST00000342741.4:c.966G>T ENSP00000339933.4:p.Arg322Ser
ENST00000392414.7:c.873G>T ENSP00000376214.3:p.Arg291Ser
NM_000298.5:c.966G>T NP_000289.1:p.Arg322Ser
NM_181871.3:c.873G>T NP_870986.1:p.Arg291Ser
XM_005245266.3:c.1125G>T XP_005245323.1:p.Arg375Ser
XM_006711386.2:c.774G>T XP_006711449.1:p.Arg258Ser
XM_011509639.1:c.1125G>T XP_011507941.1:p.Arg375Ser
XM_011509640.1:c.774G>T XP_011507942.1:p.Arg258Ser
NM_000298.6:c.966G>T MANE Select NP_000289.1:p.Arg322Ser
XM_006711386.4:c.774G>T XP_006711449.1:p.Arg258Ser
XM_011509640.3:c.774G>T XP_011507942.1:p.Arg258Ser
XM_017001493.1:c.966G>T XP_016856982.1:p.Arg322Ser
NM_181871.4:c.873G>T NP_870986.1:p.Arg291Ser