Canonical Allele Identifier: CA342748573
Gene: PKLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2697987
ClinVar RCV Id: RCV003551543

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155290657C>G , CM000663.2:g.155290657C>G GRCh38
NC_000001.10:g.155260448C>G , CM000663.1:g.155260448C>G GRCh37
NC_000001.9:g.153527072C>G NCBI36
NG_011677.1:g.15778G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342741.6:c.1640G>C MANE Select ENSP00000339933.4:p.Arg547Pro
ENST00000342741.4:c.1640G>C ENSP00000339933.4:p.Arg547Pro
ENST00000392414.7:c.1547G>C ENSP00000376214.3:p.Arg516Pro
NM_000298.5:c.1640G>C NP_000289.1:p.Arg547Pro
NM_181871.3:c.1547G>C NP_870986.1:p.Arg516Pro
XM_005245266.3:c.1799G>C XP_005245323.1:p.Arg600Pro
XM_006711386.2:c.1448G>C XP_006711449.1:p.Arg483Pro
XM_011509640.1:c.1448G>C XP_011507942.1:p.Arg483Pro
NM_000298.6:c.1640G>C MANE Select NP_000289.1:p.Arg547Pro
XM_006711386.4:c.1448G>C XP_006711449.1:p.Arg483Pro
XM_011509640.3:c.1448G>C XP_011507942.1:p.Arg483Pro
NM_181871.4:c.1547G>C NP_870986.1:p.Arg516Pro