Canonical Allele Identifier: CA2739266482
Community Standard Title: NM_001395413.1(POR):c.1806+9G>C
Gene: POR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.75986077G>C , CM000669.2:g.75986077G>C GRCh38
NC_000007.13:g.75615395G>C , CM000669.1:g.75615395G>C GRCh37
NC_000007.12:g.75453331G>C NCBI36
NG_008930.1:g.75976G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001395413.1:c.1806+9G>C MANE Select NP_001382342.1:n.1806+9G>C
ENST00000461988.6:c.1815+9G>C MANE Select ENSP00000419970.1:n.1815+9G>C
NM_000941.2:c.1815+9G>C NP_000932.3:n.1815+9G>C
NM_000941.3:c.1815+9G>C NP_000932.3:n.1815+9G>C
NM_001367562.1:c.1815+9G>C NP_001354491.1:n.1815+9G>C
NM_001367562.3:c.1806+9G>C NP_001354491.2:n.1806+9G>C
NM_001382655.1:c.1869+9G>C NP_001369584.1:n.1869+9G>C
NM_001382655.3:c.1860+9G>C NP_001369584.2:n.1860+9G>C
NM_001382657.1:c.1815+9G>C NP_001369586.1:n.1815+9G>C
NM_001382657.2:c.1806+9G>C NP_001369586.2:n.1806+9G>C
NM_001382658.1:c.1815+9G>C NP_001369587.1:n.1815+9G>C
NM_001382658.3:c.1806+9G>C NP_001369587.2:n.1806+9G>C
NM_001382659.1:c.1815+9G>C NP_001369588.1:n.1815+9G>C
NM_001382659.3:c.1806+9G>C NP_001369588.2:n.1806+9G>C
NM_001382662.1:c.1665+9G>C NP_001369591.1:n.1665+9G>C
NM_001382662.3:c.1656+9G>C NP_001369591.2:n.1656+9G>C
ENST00000394893.5:c.1815+9G>C ENSP00000378355.1:n.1815+9G>C
ENST00000412064.6:c.*117+9G>C ENSP00000404731.2:n.*117+9G>C
ENST00000439269.1:c.1029+9G>C ENSP00000412490.1:n.1029+9G>C
ENST00000447222.5:c.1966+9G>C
ENST00000454934.5:c.*1120+9G>C ENSP00000414263.1:n.*1120+9G>C
ENST00000461988.5:c.1815+9G>C ENSP00000419970.1:n.1815+9G>C
ENST00000475509.2:c.1590+9G>C ENSP00000516446.1:n.1590+9G>C
ENST00000493973.1:n.426+9G>C
ENST00000706544.1:c.1716+9G>C ENSP00000516442.1:n.1716+9G>C
ENST00000706545.1:c.1815+9G>C ENSP00000516443.1:n.1815+9G>C
ENST00000706546.1:c.1815+9G>C ENSP00000516444.1:n.1815+9G>C
ENST00000706547.1:c.1815+9G>C ENSP00000516445.1:n.1815+9G>C