Canonical Allele Identifier: CA2683385839

Gene: POR

Linked Data

• gnomAD v4: 7-75986645-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75986645C>A , CM000669.2:g.75986645C>A	GRCh38
NC_000007.13:g.75615963C>A , CM000669.1:g.75615963C>A	GRCh37
NC_000007.12:g.75453899C>A	NCBI36
NG_008930.1:g.76544C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000475509.2:c.*164C>A	ENSP00000516446.1:n.*164C>A
ENST00000706544.1:c.*164C>A	ENSP00000516442.1:n.*164C>A
ENST00000706545.1:c.*164C>A	ENSP00000516443.1:n.*164C>A
ENST00000706546.1:c.*164C>A	ENSP00000516444.1:n.*164C>A
ENST00000706547.1:c.*164C>A	ENSP00000516445.1:n.*164C>A
ENST00000461988.6:c.*164C>A MANE Select	ENSP00000419970.1:n.*164C>A
ENST00000394893.5:c.*400C>A	ENSP00000378355.1:n.*400C>A
ENST00000439269.1:c.*164C>A	ENSP00000412490.1:n.*164C>A
ENST00000454934.5:c.*1512C>A	ENSP00000414263.1:n.*1512C>A
ENST00000461988.5:c.*164C>A	ENSP00000419970.1:n.*164C>A
ENST00000493973.1:n.818C>A
NM_000941.2:c.*164C>A	NP_000932.3:n.*164C>A
NM_000941.3:c.*164C>A	NP_000932.3:n.*164C>A
NM_001367562.1:c.*164C>A	NP_001354491.1:n.*164C>A
NM_001382655.1:c.*164C>A	NP_001369584.1:n.*164C>A
NM_001382657.1:c.*164C>A	NP_001369586.1:n.*164C>A
NM_001382658.1:c.*164C>A	NP_001369587.1:n.*164C>A
NM_001382659.1:c.*164C>A	NP_001369588.1:n.*164C>A
NM_001382662.1:c.*164C>A	NP_001369591.1:n.*164C>A
NM_001367562.3:c.*164C>A	NP_001354491.2:n.*164C>A
NM_001382655.3:c.*164C>A	NP_001369584.2:n.*164C>A
NM_001382657.2:c.*164C>A	NP_001369586.2:n.*164C>A
NM_001382658.3:c.*164C>A	NP_001369587.2:n.*164C>A
NM_001382659.3:c.*164C>A	NP_001369588.2:n.*164C>A
NM_001382662.3:c.*164C>A	NP_001369591.2:n.*164C>A
NM_001395413.1:c.*164C>A MANE Select	NP_001382342.1:n.*164C>A