Canonical Allele Identifier: CA342754325
Gene: PKLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155294636C>T , CM000663.2:g.155294636C>T GRCh38
NC_000001.10:g.155264427C>T , CM000663.1:g.155264427C>T GRCh37
NC_000001.9:g.153531051C>T NCBI36
NG_011677.1:g.11799G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342741.6:c.811G>A MANE Select ENSP00000339933.4:p.Asp271Asn
ENST00000342741.4:c.811G>A ENSP00000339933.4:p.Asp271Asn
ENST00000392414.7:c.718G>A ENSP00000376214.3:p.Asp240Asn
NM_000298.5:c.811G>A NP_000289.1:p.Asp271Asn
NM_181871.3:c.718G>A NP_870986.1:p.Asp240Asn
XM_005245266.3:c.970G>A XP_005245323.1:p.Asp324Asn
XM_006711386.2:c.619G>A XP_006711449.1:p.Asp207Asn
XM_011509639.1:c.970G>A XP_011507941.1:p.Asp324Asn
XM_011509640.1:c.619G>A XP_011507942.1:p.Asp207Asn
NM_000298.6:c.811G>A MANE Select NP_000289.1:p.Asp271Asn
XM_006711386.4:c.619G>A XP_006711449.1:p.Asp207Asn
XM_011509640.3:c.619G>A XP_011507942.1:p.Asp207Asn
XM_017001493.1:c.811G>A XP_016856982.1:p.Asp271Asn
NM_181871.4:c.718G>A NP_870986.1:p.Asp240Asn