Canonical Allele Identifier: CA12575859
Gene: AOC1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.150861311G>A
GRCh37 chr7:g.150558399G>A
gnomAD v2:
7:150558399 G / A
gnomAD v3:
7:150861311 G / A
gnomAD v4:
chr7-150861311-G-A
Joint Max Group AF 0.51017361 (EAS)
Genomes Max Group AF 0.46790585 (EAS)
Exomes Max Group AF 0.51454133 (EAS)
dbSNP:
2071517
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150861311G>A , CM000669.2:g.150861311G>A GRCh38
NC_000007.13:g.150558399G>A , CM000669.1:g.150558399G>A GRCh37
NC_000007.12:g.150189332G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000360937.9:c.*102G>A MANE Select ENSP00000354193.4:n.*102G>A
ENST00000360937.8:c.*102G>A ENSP00000354193.4:n.*102G>A
ENST00000467291.5:c.*102G>A ENSP00000418328.1:n.*102G>A
ENST00000493429.5:c.*102G>A ENSP00000418614.1:n.*102G>A
XR_928169.1:n.295+15698C>T
XR_928170.1:n.425+7305C>T
XR_928171.1:n.297+15698C>T
XR_928169.2:n.301+15698C>T
XR_928171.2:n.301+15698C>T
NM_001091.4:c.*102G>A MANE Select NP_001082.2:n.*102G>A
NM_001272072.2:c.*102G>A NP_001259001.1:n.*102G>A
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