Canonical Allele Identifier: CA1108694744

Gene: AOC1

Linked Data

• dbSNP Id: rs1799961187
• gnomAD v3: 7-150861237-T-C
• gnomAD v4: 7-150861237-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150861237T>C , CM000669.2:g.150861237T>C	GRCh38
NC_000007.13:g.150558325T>C , CM000669.1:g.150558325T>C	GRCh37
NC_000007.12:g.150189258T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000360937.9:c.*28T>C MANE Select	ENSP00000354193.4:n.*28T>C
ENST00000360937.8:c.*28T>C	ENSP00000354193.4:n.*28T>C
ENST00000416793.6:c.*28T>C	ENSP00000411613.2:n.*28T>C
ENST00000467291.5:c.*28T>C	ENSP00000418328.1:n.*28T>C
ENST00000493429.5:c.*28T>C	ENSP00000418614.1:n.*28T>C
ENST00000619575.1:c.*141T>C	ENSP00000481717.1:n.*141T>C
ENST00000622116.4:c.*276T>C	ENSP00000481520.1:n.*276T>C
NM_001091.3:c.*28T>C	NP_001082.2:n.*28T>C
NM_001272072.1:c.*28T>C	NP_001259001.1:n.*28T>C
XM_011516008.1:c.*28T>C	XP_011514310.1:n.*28T>C
XM_011516009.1:c.*28T>C	XP_011514311.1:n.*28T>C
XR_928169.1:n.295+15772A>G
XR_928170.1:n.425+7379A>G
XR_928171.1:n.297+15772A>G
XM_017011944.1:c.*28T>C	XP_016867433.1:n.*28T>C
XM_017011945.1:c.*28T>C	XP_016867434.1:n.*28T>C
XM_017011946.2:c.*28T>C	XP_016867435.1:n.*28T>C
XM_017011947.1:c.*28T>C	XP_016867436.1:n.*28T>C
XR_928169.2:n.301+15772A>G
XR_928171.2:n.301+15772A>G
NM_001091.4:c.*28T>C MANE Select	NP_001082.2:n.*28T>C
NM_001272072.2:c.*28T>C	NP_001259001.1:n.*28T>C