Canonical Allele Identifier: CA2546925613
Gene: AOC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150861349C>A , CM000669.2:g.150861349C>A GRCh38
NC_000007.13:g.150558437C>A , CM000669.1:g.150558437C>A GRCh37
NC_000007.12:g.150189370C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000360937.9:c.*140C>A MANE Select ENSP00000354193.4:n.*140C>A
ENST00000360937.8:c.*140C>A ENSP00000354193.4:n.*140C>A
ENST00000467291.5:c.*140C>A ENSP00000418328.1:n.*140C>A
ENST00000493429.5:c.*140C>A ENSP00000418614.1:n.*140C>A
XR_928169.1:n.295+15660G>T
XR_928170.1:n.425+7267G>T
XR_928171.1:n.297+15660G>T
XR_928169.2:n.301+15660G>T
XR_928171.2:n.301+15660G>T
NM_001091.4:c.*140C>A MANE Select NP_001082.2:n.*140C>A
NM_001272072.2:c.*140C>A NP_001259001.1:n.*140C>A