Canonical Allele Identifier: CA169071213

Gene: AOC1

Linked Data

• dbSNP Id: rs1004330680
• gnomAD v3: 7-150846588-T-C
• gnomAD v4: 7-150846588-T-C
• MyVariant Identifiers: chr7:g.150543676T>C (hg19) ; chr7:g.150846588T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150846588T>C , CM000669.2:g.150846588T>C	GRCh38
NC_000007.13:g.150543676T>C , CM000669.1:g.150543676T>C	GRCh37
NC_000007.12:g.150174609T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000467291.5:c.-92-5527T>C	ENSP00000418328.1:n.-92-5527T>C
ENST00000493429.5:c.-92-5527T>C	ENSP00000418614.1:n.-92-5527T>C
XM_011516008.1:c.-181-5527T>C	XP_011514310.1:n.-181-5527T>C
XM_011516009.1:c.-92-5527T>C	XP_011514311.1:n.-92-5527T>C
XR_928169.1:n.296-5143A>G
XR_928170.1:n.426-5143A>G
XR_928171.1:n.298-5143A>G
XM_017011944.1:c.-92-5527T>C	XP_016867433.1:n.-92-5527T>C
XM_017011945.1:c.-92-5527T>C	XP_016867434.1:n.-92-5527T>C
XR_928169.2:n.302-5143A>G
XR_928171.2:n.302-5143A>G