Canonical Allele Identifier: CA12512390

Gene: POR

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75950172T>C , CM000669.2:g.75950172T>C	GRCh38
NC_000007.13:g.75579490T>C , CM000669.1:g.75579490T>C	GRCh37
NC_000007.12:g.75417426T>C	NCBI36
NG_008930.1:g.40071T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706544.1:c.-4-3817T>C	ENSP00000516442.1:n.-4-3817T>C
ENST00000706545.1:c.-4-3817T>C	ENSP00000516443.1:n.-4-3817T>C
ENST00000706546.1:c.-5+2928T>C	ENSP00000516444.1:n.-5+2928T>C
ENST00000706547.1:c.-5+2928T>C	ENSP00000516445.1:n.-5+2928T>C
ENST00000461988.6:c.-4-3817T>C MANE Select	ENSP00000419970.1:n.-4-3817T>C
ENST00000394893.5:c.-4-3817T>C	ENSP00000378355.1:n.-4-3817T>C
ENST00000412521.5:c.-4-3817T>C	ENSP00000409238.1:n.-4-3817T>C
ENST00000414186.5:c.-4-3817T>C	ENSP00000399327.1:n.-4-3817T>C
ENST00000418341.1:c.-5+2928T>C	ENSP00000389719.1:n.-5+2928T>C
ENST00000421059.1:c.-4-3817T>C	ENSP00000409881.1:n.-4-3817T>C
ENST00000432753.5:c.-4-3817T>C	ENSP00000389409.1:n.-4-3817T>C
ENST00000439963.5:c.-4-3817T>C	ENSP00000390540.1:n.-4-3817T>C
ENST00000448410.5:c.-4-3817T>C	ENSP00000399409.1:n.-4-3817T>C
ENST00000449920.5:c.-4-3817T>C	ENSP00000399556.1:n.-4-3817T>C
ENST00000453773.5:c.-4-3817T>C	ENSP00000395813.1:n.-4-3817T>C
ENST00000461988.5:c.-4-3817T>C	ENSP00000419970.1:n.-4-3817T>C
ENST00000471238.5:n.24-3817T>C
NM_000941.2:c.-4-3817T>C	NP_000932.3:n.-4-3817T>C
NM_000941.3:c.-4-3817T>C	NP_000932.3:n.-4-3817T>C
NM_001367562.1:c.-4-3817T>C	NP_001354491.1:n.-4-3817T>C
NM_001382655.1:c.-4-3817T>C	NP_001369584.1:n.-4-3817T>C
NM_001382657.1:c.-4-3817T>C	NP_001369586.1:n.-4-3817T>C
NM_001382658.1:c.-5+2928T>C	NP_001369587.1:n.-5+2928T>C
NM_001382659.1:c.-4-3817T>C	NP_001369588.1:n.-4-3817T>C
NM_001382662.1:c.-4-3817T>C	NP_001369591.1:n.-4-3817T>C
NM_001367562.3:c.-13-3817T>C	NP_001354491.2:n.-13-3817T>C
NM_001382655.3:c.-13-3817T>C	NP_001369584.2:n.-13-3817T>C
NM_001382657.2:c.-13-3817T>C	NP_001369586.2:n.-13-3817T>C
NM_001382658.3:c.-14+2928T>C	NP_001369587.2:n.-14+2928T>C
NM_001382659.3:c.-13-3817T>C	NP_001369588.2:n.-13-3817T>C
NM_001382662.3:c.-13-3817T>C	NP_001369591.2:n.-13-3817T>C
NM_001395413.1:c.-13-3817T>C MANE Select	NP_001382342.1:n.-13-3817T>C