Canonical Allele Identifier: CA4303993
Gene: POR HGNC NCBI

Linked Data

dbSNP Id: rs367810540
gnomAD v2: 7-75614143-C-G
gnomAD v4: 7-75984825-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.75984825C>G , CM000669.2:g.75984825C>G GRCh38
NC_000007.13:g.75614143C>G , CM000669.1:g.75614143C>G GRCh37
NC_000007.12:g.75452079C>G NCBI36
NG_008930.1:g.74724C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000475509.2:c.890C>G ENSP00000516446.1:p.Thr297Arg
ENST00000706544.1:c.1016C>G ENSP00000516442.1:p.Thr339Arg
ENST00000706545.1:c.1115C>G ENSP00000516443.1:p.Thr372Arg
ENST00000706546.1:c.1115C>G ENSP00000516444.1:p.Thr372Arg
ENST00000706547.1:c.1115C>G ENSP00000516445.1:p.Thr372Arg
ENST00000461988.6:c.1115C>G MANE Select ENSP00000419970.1:p.Thr372Arg
ENST00000394893.5:c.1115C>G ENSP00000378355.1:p.Thr372Arg
ENST00000412064.6:c.*108+1189C>G ENSP00000404731.2:n.*108+1189C>G
ENST00000439269.1:c.329C>G ENSP00000412490.1:p.Thr110Arg
ENST00000447222.5:c.1266C>G
ENST00000454934.5:c.*420C>G ENSP00000414263.1:n.*420C>G
ENST00000461988.5:c.1115C>G ENSP00000419970.1:p.Thr372Arg
ENST00000487247.5:n.470C>G
ENST00000495770.1:n.117C>G
ENST00000496888.5:n.489C>G
NM_000941.2:c.1115C>G NP_000932.3:p.Thr372Arg
NM_000941.3:c.1115C>G NP_000932.3:p.Thr372Arg
NM_001367562.1:c.1115C>G NP_001354491.1:p.Thr372Arg
NM_001382655.1:c.1169C>G NP_001369584.1:p.Thr390Arg
NM_001382657.1:c.1115C>G NP_001369586.1:p.Thr372Arg
NM_001382658.1:c.1115C>G NP_001369587.1:p.Thr372Arg
NM_001382659.1:c.1115C>G NP_001369588.1:p.Thr372Arg
NM_001382662.1:c.1115C>G NP_001369591.1:p.Thr372Arg
NM_001367562.3:c.1106C>G NP_001354491.2:p.Thr369Arg
NM_001382655.3:c.1160C>G NP_001369584.2:p.Thr387Arg
NM_001382657.2:c.1106C>G NP_001369586.2:p.Thr369Arg
NM_001382658.3:c.1106C>G NP_001369587.2:p.Thr369Arg
NM_001382659.3:c.1106C>G NP_001369588.2:p.Thr369Arg
NM_001382662.3:c.1106C>G NP_001369591.2:p.Thr369Arg
NM_001395413.1:c.1106C>G MANE Select NP_001382342.1:p.Thr369Arg