Canonical Allele Identifier: CA12488501
Gene: AOC1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.150851884G>T
GRCh37 chr7:g.150548972G>T
gnomAD v2:
7:150548972 G / T
gnomAD v3:
7:150851884 G / T
gnomAD v4:
chr7-150851884-G-T
Joint Max Group AF 0.25996532 (AFR)
Genomes Max Group AF 0.25992981 (AFR)
Exomes Max Group AF 0.18977622 (NFE)
dbSNP:
2052129
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150851884G>T , CM000669.2:g.150851884G>T GRCh38
NC_000007.13:g.150548972G>T , CM000669.1:g.150548972G>T GRCh37
NC_000007.12:g.150179905G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000467291.5:c.-92-231G>T ENSP00000418328.1:n.-92-231G>T
ENST00000493429.5:c.-92-231G>T ENSP00000418614.1:n.-92-231G>T
XM_011516008.1:c.-181-231G>T XP_011514310.1:n.-181-231G>T
XM_011516009.1:c.-92-231G>T XP_011514311.1:n.-92-231G>T
XR_928169.1:n.296-10439C>A
XR_928170.1:n.426-10439C>A
XR_928171.1:n.298-10439C>A
XM_017011944.1:c.-92-231G>T XP_016867433.1:n.-92-231G>T
XM_017011945.1:c.-92-231G>T XP_016867434.1:n.-92-231G>T
XR_928169.2:n.302-10439C>A
XR_928171.2:n.302-10439C>A
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