Canonical Allele Identifier: CA4303764
Community Standard Title: NM_001395413.1(POR):c.633-20C>T
Gene: POR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.75981497C>T , CM000669.2:g.75981497C>T GRCh38
NC_000007.13:g.75610815C>T , CM000669.1:g.75610815C>T GRCh37
NC_000007.12:g.75448751C>T NCBI36
NG_008930.1:g.71396C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001395413.1:c.633-20C>T MANE Select NP_001382342.1:n.633-20C>T
ENST00000461988.6:c.642-20C>T MANE Select ENSP00000419970.1:n.642-20C>T
NM_000941.2:c.642-20C>T NP_000932.3:n.642-20C>T
NM_000941.3:c.642-20C>T NP_000932.3:n.642-20C>T
NM_001367562.1:c.642-20C>T NP_001354491.1:n.642-20C>T
NM_001367562.3:c.633-20C>T NP_001354491.2:n.633-20C>T
NM_001382655.1:c.696-20C>T NP_001369584.1:n.696-20C>T
NM_001382655.3:c.687-20C>T NP_001369584.2:n.687-20C>T
NM_001382657.1:c.642-20C>T NP_001369586.1:n.642-20C>T
NM_001382657.2:c.633-20C>T NP_001369586.2:n.633-20C>T
NM_001382658.1:c.642-20C>T NP_001369587.1:n.642-20C>T
NM_001382658.3:c.633-20C>T NP_001369587.2:n.633-20C>T
NM_001382659.1:c.642-20C>T NP_001369588.1:n.642-20C>T
NM_001382659.3:c.633-20C>T NP_001369588.2:n.633-20C>T
NM_001382662.1:c.642-20C>T NP_001369591.1:n.642-20C>T
NM_001382662.3:c.633-20C>T NP_001369591.2:n.633-20C>T
ENST00000394893.5:c.642-20C>T ENSP00000378355.1:n.642-20C>T
ENST00000412064.6:c.566+400C>T ENSP00000404731.2:n.566+400C>T
ENST00000447222.5:c.793-20C>T
ENST00000454934.5:c.517-20C>T ENSP00000414263.1:n.517-20C>T
ENST00000460892.1:n.242-20C>T
ENST00000461988.5:c.642-20C>T ENSP00000419970.1:n.642-20C>T
ENST00000475509.2:c.417-20C>T ENSP00000516446.1:n.417-20C>T
ENST00000706544.1:c.642-20C>T ENSP00000516442.1:n.642-20C>T
ENST00000706545.1:c.642-20C>T ENSP00000516443.1:n.642-20C>T
ENST00000706546.1:c.642-20C>T ENSP00000516444.1:n.642-20C>T
ENST00000706547.1:c.642-20C>T ENSP00000516445.1:n.642-20C>T