Canonical Allele Identifier: CA4565846
Gene: AOC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3127347
ClinVar RCV Id: RCV004424700
dbSNP Id: rs750871073

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150856600G>A , CM000669.2:g.150856600G>A GRCh38
NC_000007.13:g.150553688G>A , CM000669.1:g.150553688G>A GRCh37
NC_000007.12:g.150184621G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000360937.9:c.130G>A MANE Select ENSP00000354193.4:p.Val44Met
ENST00000360937.8:c.130G>A ENSP00000354193.4:p.Val44Met
ENST00000416793.6:c.130G>A ENSP00000411613.2:p.Val44Met
ENST00000460213.1:c.130G>A ENSP00000418557.1:p.Val44Met
ENST00000467291.5:c.130G>A ENSP00000418328.1:p.Val44Met
ENST00000483043.1:c.130G>A ENSP00000417392.1:p.Val44Met
ENST00000493429.5:c.130G>A ENSP00000418614.1:p.Val44Met
ENST00000619575.1:c.130G>A ENSP00000481717.1:p.Val44Met
ENST00000622116.4:c.-1293G>A ENSP00000481520.1:n.-1293G>A
NM_001091.3:c.130G>A NP_001082.2:p.Val44Met
NM_001272072.1:c.130G>A NP_001259001.1:p.Val44Met
XM_011516008.1:c.130G>A XP_011514310.1:p.Val44Met
XM_011516009.1:c.130G>A XP_011514311.1:p.Val44Met
XR_928169.1:n.296-15155C>T
XR_928170.1:n.425+12016C>T
XR_928171.1:n.298-15155C>T
XM_017011944.1:c.130G>A XP_016867433.1:p.Val44Met
XM_017011945.1:c.130G>A XP_016867434.1:p.Val44Met
XM_017011946.2:c.130G>A XP_016867435.1:p.Val44Met
XM_017011947.1:c.130G>A XP_016867436.1:p.Val44Met
XR_928169.2:n.302-15155C>T
XR_928171.2:n.302-15155C>T
NM_001091.4:c.130G>A MANE Select NP_001082.2:p.Val44Met
NM_001272072.2:c.130G>A NP_001259001.1:p.Val44Met