Canonical Allele Identifier: CA4566400
Gene: AOC1 HGNC NCBI

Linked Data

dbSNP Id: rs780794394

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150861201C>A , CM000669.2:g.150861201C>A GRCh38
NC_000007.13:g.150558289C>A , CM000669.1:g.150558289C>A GRCh37
NC_000007.12:g.150189222C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000360937.9:c.2248C>A MANE Select ENSP00000354193.4:p.Pro750Thr
ENST00000360937.8:c.2248C>A ENSP00000354193.4:p.Pro750Thr
ENST00000416793.6:c.2305C>A ENSP00000411613.2:p.Pro769Thr
ENST00000467291.5:c.2248C>A ENSP00000418328.1:p.Pro750Thr
ENST00000480582.1:n.925C>A
ENST00000493429.5:c.2248C>A ENSP00000418614.1:p.Pro750Thr
ENST00000619575.1:c.*105C>A ENSP00000481717.1:n.*105C>A
ENST00000622116.4:c.*240C>A ENSP00000481520.1:n.*240C>A
NM_001091.3:c.2248C>A NP_001082.2:p.Pro750Thr
NM_001272072.1:c.2305C>A NP_001259001.1:p.Pro769Thr
XM_011516008.1:c.2305C>A XP_011514310.1:p.Pro769Thr
XM_011516009.1:c.2248C>A XP_011514311.1:p.Pro750Thr
XR_928169.1:n.295+15808G>T
XR_928170.1:n.425+7415G>T
XR_928171.1:n.297+15808G>T
XM_017011944.1:c.2305C>A XP_016867433.1:p.Pro769Thr
XM_017011945.1:c.2305C>A XP_016867434.1:p.Pro769Thr
XM_017011946.2:c.2305C>A XP_016867435.1:p.Pro769Thr
XM_017011947.1:c.2248C>A XP_016867436.1:p.Pro750Thr
XR_928169.2:n.301+15808G>T
XR_928171.2:n.301+15808G>T
NM_001091.4:c.2248C>A MANE Select NP_001082.2:p.Pro750Thr
NM_001272072.2:c.2305C>A NP_001259001.1:p.Pro769Thr