Canonical Allele Identifier: CA2607909642
Gene: POR HGNC NCBI

Linked Data

dbSNP Id: rs1789293660
gnomAD v4: 7-75984623-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.75984623A>C , CM000669.2:g.75984623A>C GRCh38
NC_000007.13:g.75613941A>C , CM000669.1:g.75613941A>C GRCh37
NC_000007.12:g.75451877A>C NCBI36
NG_008930.1:g.74522A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000475509.2:c.842-154A>C ENSP00000516446.1:n.842-154A>C
ENST00000706544.1:c.968-154A>C ENSP00000516442.1:n.968-154A>C
ENST00000706545.1:c.1067-154A>C ENSP00000516443.1:n.1067-154A>C
ENST00000706546.1:c.1067-154A>C ENSP00000516444.1:n.1067-154A>C
ENST00000706547.1:c.1067-154A>C ENSP00000516445.1:n.1067-154A>C
ENST00000461988.6:c.1067-154A>C MANE Select ENSP00000419970.1:n.1067-154A>C
ENST00000394893.5:c.1067-154A>C ENSP00000378355.1:n.1067-154A>C
ENST00000412064.6:c.*108+987A>C ENSP00000404731.2:n.*108+987A>C
ENST00000439269.1:c.281-154A>C ENSP00000412490.1:n.281-154A>C
ENST00000447222.5:c.1218-154A>C
ENST00000454934.5:c.*372-154A>C ENSP00000414263.1:n.*372-154A>C
ENST00000461988.5:c.1067-154A>C ENSP00000419970.1:n.1067-154A>C
ENST00000487247.5:n.422-154A>C
ENST00000495770.1:n.69-154A>C
ENST00000496888.5:n.441-154A>C
NM_000941.2:c.1067-154A>C NP_000932.3:n.1067-154A>C
NM_000941.3:c.1067-154A>C NP_000932.3:n.1067-154A>C
NM_001367562.1:c.1067-154A>C NP_001354491.1:n.1067-154A>C
NM_001382655.1:c.1121-154A>C NP_001369584.1:n.1121-154A>C
NM_001382657.1:c.1067-154A>C NP_001369586.1:n.1067-154A>C
NM_001382658.1:c.1067-154A>C NP_001369587.1:n.1067-154A>C
NM_001382659.1:c.1067-154A>C NP_001369588.1:n.1067-154A>C
NM_001382662.1:c.1067-154A>C NP_001369591.1:n.1067-154A>C
NM_001367562.3:c.1058-154A>C NP_001354491.2:n.1058-154A>C
NM_001382655.3:c.1112-154A>C NP_001369584.2:n.1112-154A>C
NM_001382657.2:c.1058-154A>C NP_001369586.2:n.1058-154A>C
NM_001382658.3:c.1058-154A>C NP_001369587.2:n.1058-154A>C
NM_001382659.3:c.1058-154A>C NP_001369588.2:n.1058-154A>C
NM_001382662.3:c.1058-154A>C NP_001369591.2:n.1058-154A>C
NM_001395413.1:c.1058-154A>C MANE Select NP_001382342.1:n.1058-154A>C