Canonical Allele Identifier: CA4303768
Community Standard Title: NM_001395413.1(POR):c.633-5C>G
Gene: POR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.75981512C>G , CM000669.2:g.75981512C>G GRCh38
NC_000007.13:g.75610830C>G , CM000669.1:g.75610830C>G GRCh37
NC_000007.12:g.75448766C>G NCBI36
NG_008930.1:g.71411C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001395413.1:c.633-5C>G MANE Select NP_001382342.1:n.633-5C>G
ENST00000461988.6:c.642-5C>G MANE Select ENSP00000419970.1:n.642-5C>G
NM_000941.2:c.642-5C>G NP_000932.3:n.642-5C>G
NM_000941.3:c.642-5C>G NP_000932.3:n.642-5C>G
NM_001367562.1:c.642-5C>G NP_001354491.1:n.642-5C>G
NM_001367562.3:c.633-5C>G NP_001354491.2:n.633-5C>G
NM_001382655.1:c.696-5C>G NP_001369584.1:n.696-5C>G
NM_001382655.3:c.687-5C>G NP_001369584.2:n.687-5C>G
NM_001382657.1:c.642-5C>G NP_001369586.1:n.642-5C>G
NM_001382657.2:c.633-5C>G NP_001369586.2:n.633-5C>G
NM_001382658.1:c.642-5C>G NP_001369587.1:n.642-5C>G
NM_001382658.3:c.633-5C>G NP_001369587.2:n.633-5C>G
NM_001382659.1:c.642-5C>G NP_001369588.1:n.642-5C>G
NM_001382659.3:c.633-5C>G NP_001369588.2:n.633-5C>G
NM_001382662.1:c.642-5C>G NP_001369591.1:n.642-5C>G
NM_001382662.3:c.633-5C>G NP_001369591.2:n.633-5C>G
ENST00000394893.5:c.642-5C>G ENSP00000378355.1:n.642-5C>G
ENST00000412064.6:c.566+415C>G ENSP00000404731.2:n.566+415C>G
ENST00000447222.5:c.793-5C>G
ENST00000454934.5:c.517-5C>G ENSP00000414263.1:n.517-5C>G
ENST00000460892.1:n.242-5C>G
ENST00000461988.5:c.642-5C>G ENSP00000419970.1:n.642-5C>G
ENST00000475509.2:c.417-5C>G ENSP00000516446.1:n.417-5C>G
ENST00000706544.1:c.642-5C>G ENSP00000516442.1:n.642-5C>G
ENST00000706545.1:c.642-5C>G ENSP00000516443.1:n.642-5C>G
ENST00000706546.1:c.642-5C>G ENSP00000516444.1:n.642-5C>G
ENST00000706547.1:c.642-5C>G ENSP00000516445.1:n.642-5C>G