Canonical Allele Identifier: CA369847558
Gene: AOC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150857354T>A , CM000669.2:g.150857354T>A GRCh38
NC_000007.13:g.150554442T>A , CM000669.1:g.150554442T>A GRCh37
NC_000007.12:g.150185375T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000360937.9:c.884T>A MANE Select ENSP00000354193.4:p.Ile295Asn
ENST00000360937.8:c.884T>A ENSP00000354193.4:p.Ile295Asn
ENST00000416793.6:c.884T>A ENSP00000411613.2:p.Ile295Asn
ENST00000467291.5:c.884T>A ENSP00000418328.1:p.Ile295Asn
ENST00000483043.1:c.884T>A ENSP00000417392.1:p.Ile295Asn
ENST00000493429.5:c.884T>A ENSP00000418614.1:p.Ile295Asn
ENST00000619575.1:c.882T>A ENSP00000481717.1:p.His294Gln
ENST00000622116.4:c.-539T>A ENSP00000481520.1:n.-539T>A
NM_001091.3:c.884T>A NP_001082.2:p.Ile295Asn
NM_001272072.1:c.884T>A NP_001259001.1:p.Ile295Asn
XM_011516008.1:c.884T>A XP_011514310.1:p.Ile295Asn
XM_011516009.1:c.884T>A XP_011514311.1:p.Ile295Asn
XR_928169.1:n.296-15909A>T
XR_928170.1:n.425+11262A>T
XR_928171.1:n.298-15909A>T
XM_017011944.1:c.884T>A XP_016867433.1:p.Ile295Asn
XM_017011945.1:c.884T>A XP_016867434.1:p.Ile295Asn
XM_017011946.2:c.884T>A XP_016867435.1:p.Ile295Asn
XM_017011947.1:c.884T>A XP_016867436.1:p.Ile295Asn
XR_928169.2:n.302-15909A>T
XR_928171.2:n.302-15909A>T
NM_001091.4:c.884T>A MANE Select NP_001082.2:p.Ile295Asn
NM_001272072.2:c.884T>A NP_001259001.1:p.Ile295Asn