Canonical Allele Identifier: CA2685597599

Gene: AOC1

Linked Data

• gnomAD v4: 7-150861222-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150861222T>A , CM000669.2:g.150861222T>A	GRCh38
NC_000007.13:g.150558310T>A , CM000669.1:g.150558310T>A	GRCh37
NC_000007.12:g.150189243T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000360937.9:c.*13T>A MANE Select	ENSP00000354193.4:n.*13T>A
ENST00000360937.8:c.*13T>A	ENSP00000354193.4:n.*13T>A
ENST00000416793.6:c.*13T>A	ENSP00000411613.2:n.*13T>A
ENST00000467291.5:c.*13T>A	ENSP00000418328.1:n.*13T>A
ENST00000493429.5:c.*13T>A	ENSP00000418614.1:n.*13T>A
ENST00000619575.1:c.*126T>A	ENSP00000481717.1:n.*126T>A
ENST00000622116.4:c.*261T>A	ENSP00000481520.1:n.*261T>A
NM_001091.3:c.*13T>A	NP_001082.2:n.*13T>A
NM_001272072.1:c.*13T>A	NP_001259001.1:n.*13T>A
XM_011516008.1:c.*13T>A	XP_011514310.1:n.*13T>A
XM_011516009.1:c.*13T>A	XP_011514311.1:n.*13T>A
XR_928169.1:n.295+15787A>T
XR_928170.1:n.425+7394A>T
XR_928171.1:n.297+15787A>T
XM_017011944.1:c.*13T>A	XP_016867433.1:n.*13T>A
XM_017011945.1:c.*13T>A	XP_016867434.1:n.*13T>A
XM_017011946.2:c.*13T>A	XP_016867435.1:n.*13T>A
XM_017011947.1:c.*13T>A	XP_016867436.1:n.*13T>A
XR_928169.2:n.301+15787A>T
XR_928171.2:n.301+15787A>T
NM_001091.4:c.*13T>A MANE Select	NP_001082.2:n.*13T>A
NM_001272072.2:c.*13T>A	NP_001259001.1:n.*13T>A