Canonical Allele Identifier: CA367750328
Gene: POR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.75985808T>G , CM000669.2:g.75985808T>G GRCh38
NC_000007.13:g.75615126T>G , CM000669.1:g.75615126T>G GRCh37
NC_000007.12:g.75453062T>G NCBI36
NG_008930.1:g.75707T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000475509.2:c.1403T>G ENSP00000516446.1:p.Phe468Cys
ENST00000706544.1:c.1529T>G ENSP00000516442.1:p.Phe510Cys
ENST00000706545.1:c.1628T>G ENSP00000516443.1:p.Phe543Cys
ENST00000706546.1:c.1628T>G ENSP00000516444.1:p.Phe543Cys
ENST00000706547.1:c.1628T>G ENSP00000516445.1:p.Phe543Cys
ENST00000461988.6:c.1628T>G MANE Select ENSP00000419970.1:p.Phe543Cys
ENST00000394893.5:c.1628T>G ENSP00000378355.1:p.Phe543Cys
ENST00000412064.6:c.*109-252T>G ENSP00000404731.2:n.*109-252T>G
ENST00000439269.1:c.842T>G ENSP00000412490.1:p.Phe281Cys
ENST00000447222.5:c.1779T>G
ENST00000454934.5:c.*933T>G ENSP00000414263.1:n.*933T>G
ENST00000461988.5:c.1628T>G ENSP00000419970.1:p.Phe543Cys
ENST00000493973.1:n.239T>G
NM_000941.2:c.1628T>G NP_000932.3:p.Phe543Cys
NM_000941.3:c.1628T>G NP_000932.3:p.Phe543Cys
NM_001367562.1:c.1628T>G NP_001354491.1:p.Phe543Cys
NM_001382655.1:c.1682T>G NP_001369584.1:p.Phe561Cys
NM_001382657.1:c.1628T>G NP_001369586.1:p.Phe543Cys
NM_001382658.1:c.1628T>G NP_001369587.1:p.Phe543Cys
NM_001382659.1:c.1628T>G NP_001369588.1:p.Phe543Cys
NM_001382662.1:c.1478T>G NP_001369591.1:p.Phe493Cys
NM_001367562.3:c.1619T>G NP_001354491.2:p.Phe540Cys
NM_001382655.3:c.1673T>G NP_001369584.2:p.Phe558Cys
NM_001382657.2:c.1619T>G NP_001369586.2:p.Phe540Cys
NM_001382658.3:c.1619T>G NP_001369587.2:p.Phe540Cys
NM_001382659.3:c.1619T>G NP_001369588.2:p.Phe540Cys
NM_001382662.3:c.1469T>G NP_001369591.2:p.Phe490Cys
NM_001395413.1:c.1619T>G MANE Select NP_001382342.1:p.Phe540Cys