Canonical Allele Identifier: CA1108694754
Gene: AOC1 HGNC NCBI

Linked Data

dbSNP Id: rs1799962700
gnomAD v3: 7-150861297-G-A
gnomAD v4: 7-150861297-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150861297G>A , CM000669.2:g.150861297G>A GRCh38
NC_000007.13:g.150558385G>A , CM000669.1:g.150558385G>A GRCh37
NC_000007.12:g.150189318G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000360937.9:c.*88G>A MANE Select ENSP00000354193.4:n.*88G>A
ENST00000360937.8:c.*88G>A ENSP00000354193.4:n.*88G>A
ENST00000467291.5:c.*88G>A ENSP00000418328.1:n.*88G>A
ENST00000493429.5:c.*88G>A ENSP00000418614.1:n.*88G>A
XR_928169.1:n.295+15712C>T
XR_928170.1:n.425+7319C>T
XR_928171.1:n.297+15712C>T
XR_928169.2:n.301+15712C>T
XR_928171.2:n.301+15712C>T
NM_001091.4:c.*88G>A MANE Select NP_001082.2:n.*88G>A
NM_001272072.2:c.*88G>A NP_001259001.1:n.*88G>A
Search 100 bp 5'
Search 100 bp 3'