Canonical Allele Identifier: CA367749449
Gene: POR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.75984911G>T , CM000669.2:g.75984911G>T GRCh38
NC_000007.13:g.75614229G>T , CM000669.1:g.75614229G>T GRCh37
NC_000007.12:g.75452165G>T NCBI36
NG_008930.1:g.74810G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000475509.2:c.976G>T ENSP00000516446.1:p.Glu326Ter
ENST00000706544.1:c.1102G>T ENSP00000516442.1:p.Glu368Ter
ENST00000706545.1:c.1201G>T ENSP00000516443.1:p.Glu401Ter
ENST00000706546.1:c.1201G>T ENSP00000516444.1:p.Glu401Ter
ENST00000706547.1:c.1201G>T ENSP00000516445.1:p.Glu401Ter
ENST00000461988.6:c.1201G>T MANE Select ENSP00000419970.1:p.Glu401Ter
ENST00000394893.5:c.1201G>T ENSP00000378355.1:p.Glu401Ter
ENST00000412064.6:c.*109-1149G>T ENSP00000404731.2:n.*109-1149G>T
ENST00000439269.1:c.415G>T ENSP00000412490.1:p.Glu139Ter
ENST00000447222.5:c.1352G>T
ENST00000454934.5:c.*506G>T ENSP00000414263.1:n.*506G>T
ENST00000461988.5:c.1201G>T ENSP00000419970.1:p.Glu401Ter
ENST00000487247.5:n.556G>T
ENST00000495770.1:n.203G>T
ENST00000496888.5:n.575G>T
NM_000941.2:c.1201G>T NP_000932.3:p.Glu401Ter
NM_000941.3:c.1201G>T NP_000932.3:p.Glu401Ter
NM_001367562.1:c.1201G>T NP_001354491.1:p.Glu401Ter
NM_001382655.1:c.1255G>T NP_001369584.1:p.Glu419Ter
NM_001382657.1:c.1201G>T NP_001369586.1:p.Glu401Ter
NM_001382658.1:c.1201G>T NP_001369587.1:p.Glu401Ter
NM_001382659.1:c.1201G>T NP_001369588.1:p.Glu401Ter
NM_001382662.1:c.1201G>T NP_001369591.1:p.Glu401Ter
NM_001367562.3:c.1192G>T NP_001354491.2:p.Glu398Ter
NM_001382655.3:c.1246G>T NP_001369584.2:p.Glu416Ter
NM_001382657.2:c.1192G>T NP_001369586.2:p.Glu398Ter
NM_001382658.3:c.1192G>T NP_001369587.2:p.Glu398Ter
NM_001382659.3:c.1192G>T NP_001369588.2:p.Glu398Ter
NM_001382662.3:c.1192G>T NP_001369591.2:p.Glu398Ter
NM_001395413.1:c.1192G>T MANE Select NP_001382342.1:p.Glu398Ter