Canonical Allele Identifier: CA367749284
Gene: POR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.75984828C>T , CM000669.2:g.75984828C>T GRCh38
NC_000007.13:g.75614146C>T , CM000669.1:g.75614146C>T GRCh37
NC_000007.12:g.75452082C>T NCBI36
NG_008930.1:g.74727C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000475509.2:c.893C>T ENSP00000516446.1:p.Ala298Val
ENST00000706544.1:c.1019C>T ENSP00000516442.1:p.Ala340Val
ENST00000706545.1:c.1118C>T ENSP00000516443.1:p.Ala373Val
ENST00000706546.1:c.1118C>T ENSP00000516444.1:p.Ala373Val
ENST00000706547.1:c.1118C>T ENSP00000516445.1:p.Ala373Val
ENST00000461988.6:c.1118C>T MANE Select ENSP00000419970.1:p.Ala373Val
ENST00000394893.5:c.1118C>T ENSP00000378355.1:p.Ala373Val
ENST00000412064.6:c.*108+1192C>T ENSP00000404731.2:n.*108+1192C>T
ENST00000439269.1:c.332C>T ENSP00000412490.1:p.Ala111Val
ENST00000447222.5:c.1269C>T
ENST00000454934.5:c.*423C>T ENSP00000414263.1:n.*423C>T
ENST00000461988.5:c.1118C>T ENSP00000419970.1:p.Ala373Val
ENST00000487247.5:n.473C>T
ENST00000495770.1:n.120C>T
ENST00000496888.5:n.492C>T
NM_000941.2:c.1118C>T NP_000932.3:p.Ala373Val
NM_000941.3:c.1118C>T NP_000932.3:p.Ala373Val
NM_001367562.1:c.1118C>T NP_001354491.1:p.Ala373Val
NM_001382655.1:c.1172C>T NP_001369584.1:p.Ala391Val
NM_001382657.1:c.1118C>T NP_001369586.1:p.Ala373Val
NM_001382658.1:c.1118C>T NP_001369587.1:p.Ala373Val
NM_001382659.1:c.1118C>T NP_001369588.1:p.Ala373Val
NM_001382662.1:c.1118C>T NP_001369591.1:p.Ala373Val
NM_001367562.3:c.1109C>T NP_001354491.2:p.Ala370Val
NM_001382655.3:c.1163C>T NP_001369584.2:p.Ala388Val
NM_001382657.2:c.1109C>T NP_001369586.2:p.Ala370Val
NM_001382658.3:c.1109C>T NP_001369587.2:p.Ala370Val
NM_001382659.3:c.1109C>T NP_001369588.2:p.Ala370Val
NM_001382662.3:c.1109C>T NP_001369591.2:p.Ala370Val
NM_001395413.1:c.1109C>T MANE Select NP_001382342.1:p.Ala370Val