Canonical Allele Identifier: CA169078126

Gene: AOC1

Linked Data

• dbSNP Id: rs975439785
• gnomAD v2: 7-150558427-A-G
• gnomAD v3: 7-150861339-A-G
• gnomAD v4: 7-150861339-A-G
• MyVariant Identifiers: chr7:g.150558427A>G (hg19) ; chr7:g.150558427_150558429delinsGAC (hg19) ; chr7:g.150861339A>G (hg38) ; chr7:g.150861339_150861341delinsGAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150861339A>G , CM000669.2:g.150861339A>G	GRCh38
NC_000007.13:g.150558427A>G , CM000669.1:g.150558427A>G	GRCh37
NC_000007.12:g.150189360A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360937.9:c.*130A>G MANE Select	ENSP00000354193.4:n.*130A>G
ENST00000360937.8:c.*130A>G	ENSP00000354193.4:n.*130A>G
ENST00000467291.5:c.*130A>G	ENSP00000418328.1:n.*130A>G
ENST00000493429.5:c.*130A>G	ENSP00000418614.1:n.*130A>G
XR_928169.1:n.295+15670T>C
XR_928170.1:n.425+7277T>C
XR_928171.1:n.297+15670T>C
XR_928169.2:n.301+15670T>C
XR_928171.2:n.301+15670T>C
NM_001091.4:c.*130A>G MANE Select	NP_001082.2:n.*130A>G
NM_001272072.2:c.*130A>G	NP_001259001.1:n.*130A>G