Canonical Allele Identifier: CA367750715
Gene: POR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.75986060T>G , CM000669.2:g.75986060T>G GRCh38
NC_000007.13:g.75615378T>G , CM000669.1:g.75615378T>G GRCh37
NC_000007.12:g.75453314T>G NCBI36
NG_008930.1:g.75959T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000475509.2:c.1582T>G ENSP00000516446.1:p.Ser528Ala
ENST00000706544.1:c.1708T>G ENSP00000516442.1:p.Ser570Ala
ENST00000706545.1:c.1807T>G ENSP00000516443.1:p.Ser603Ala
ENST00000706546.1:c.1807T>G ENSP00000516444.1:p.Ser603Ala
ENST00000706547.1:c.1807T>G ENSP00000516445.1:p.Ser603Ala
ENST00000461988.6:c.1807T>G MANE Select ENSP00000419970.1:p.Ser603Ala
ENST00000394893.5:c.1807T>G ENSP00000378355.1:p.Ser603Ala
ENST00000412064.6:c.*109T>G ENSP00000404731.2:n.*109T>G
ENST00000439269.1:c.1021T>G ENSP00000412490.1:p.Ser341Ala
ENST00000447222.5:c.1958T>G
ENST00000454934.5:c.*1112T>G ENSP00000414263.1:n.*1112T>G
ENST00000461988.5:c.1807T>G ENSP00000419970.1:p.Ser603Ala
ENST00000493973.1:n.418T>G
NM_000941.2:c.1807T>G NP_000932.3:p.Ser603Ala
NM_000941.3:c.1807T>G NP_000932.3:p.Ser603Ala
NM_001367562.1:c.1807T>G NP_001354491.1:p.Ser603Ala
NM_001382655.1:c.1861T>G NP_001369584.1:p.Ser621Ala
NM_001382657.1:c.1807T>G NP_001369586.1:p.Ser603Ala
NM_001382658.1:c.1807T>G NP_001369587.1:p.Ser603Ala
NM_001382659.1:c.1807T>G NP_001369588.1:p.Ser603Ala
NM_001382662.1:c.1657T>G NP_001369591.1:p.Ser553Ala
NM_001367562.3:c.1798T>G NP_001354491.2:p.Ser600Ala
NM_001382655.3:c.1852T>G NP_001369584.2:p.Ser618Ala
NM_001382657.2:c.1798T>G NP_001369586.2:p.Ser600Ala
NM_001382658.3:c.1798T>G NP_001369587.2:p.Ser600Ala
NM_001382659.3:c.1798T>G NP_001369588.2:p.Ser600Ala
NM_001382662.3:c.1648T>G NP_001369591.2:p.Ser550Ala
NM_001395413.1:c.1798T>G MANE Select NP_001382342.1:p.Ser600Ala