Canonical Allele Identifier: CA2683379962
Gene: POR HGNC NCBI

Linked Data

gnomAD v4: 7-75981617-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.75981617G>A , CM000669.2:g.75981617G>A GRCh38
NC_000007.13:g.75610935G>A , CM000669.1:g.75610935G>A GRCh37
NC_000007.12:g.75448871G>A NCBI36
NG_008930.1:g.71516G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000475509.2:c.506+11G>A ENSP00000516446.1:n.506+11G>A
ENST00000706544.1:c.731+11G>A ENSP00000516442.1:n.731+11G>A
ENST00000706545.1:c.731+11G>A ENSP00000516443.1:n.731+11G>A
ENST00000706546.1:c.731+11G>A ENSP00000516444.1:n.731+11G>A
ENST00000706547.1:c.731+11G>A ENSP00000516445.1:n.731+11G>A
ENST00000461988.6:c.731+11G>A MANE Select ENSP00000419970.1:n.731+11G>A
ENST00000394893.5:c.731+11G>A ENSP00000378355.1:n.731+11G>A
ENST00000412064.6:c.566+520G>A ENSP00000404731.2:n.566+520G>A
ENST00000447222.5:c.882+11G>A
ENST00000454934.5:c.*36+11G>A ENSP00000414263.1:n.*36+11G>A
ENST00000460892.1:n.331+11G>A
ENST00000461988.5:c.731+11G>A ENSP00000419970.1:n.731+11G>A
NM_000941.2:c.731+11G>A NP_000932.3:n.731+11G>A
NM_000941.3:c.731+11G>A NP_000932.3:n.731+11G>A
NM_001367562.1:c.731+11G>A NP_001354491.1:n.731+11G>A
NM_001382655.1:c.785+11G>A NP_001369584.1:n.785+11G>A
NM_001382657.1:c.731+11G>A NP_001369586.1:n.731+11G>A
NM_001382658.1:c.731+11G>A NP_001369587.1:n.731+11G>A
NM_001382659.1:c.731+11G>A NP_001369588.1:n.731+11G>A
NM_001382662.1:c.731+11G>A NP_001369591.1:n.731+11G>A
NM_001367562.3:c.722+11G>A NP_001354491.2:n.722+11G>A
NM_001382655.3:c.776+11G>A NP_001369584.2:n.776+11G>A
NM_001382657.2:c.722+11G>A NP_001369586.2:n.722+11G>A
NM_001382658.3:c.722+11G>A NP_001369587.2:n.722+11G>A
NM_001382659.3:c.722+11G>A NP_001369588.2:n.722+11G>A
NM_001382662.3:c.722+11G>A NP_001369591.2:n.722+11G>A
NM_001395413.1:c.722+11G>A MANE Select NP_001382342.1:n.722+11G>A