Canonical Allele Identifier: CA835222369

Gene: AOC1

Linked Data

• dbSNP Id: rs12540770
• gnomAD v3: 7-150832260-G-A
• gnomAD v4: 7-150832260-G-A
• MyVariant Identifiers: chr7:g.150529348G>A (hg19) ; chr7:g.150832260G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150832260G>A , CM000669.2:g.150832260G>A	GRCh38
NC_000007.13:g.150529348G>A , CM000669.1:g.150529348G>A	GRCh37
NC_000007.12:g.150160281G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000467291.5:c.-93+4858G>A	ENSP00000418328.1:n.-93+4858G>A
ENST00000493429.5:c.-93+4858G>A	ENSP00000418614.1:n.-93+4858G>A
XM_011516008.1:c.-182+4858G>A	XP_011514310.1:n.-182+4858G>A
XR_928169.1:n.352-3352C>T
XR_928170.1:n.482-3352C>T
XR_928171.1:n.354-3352C>T
XM_017011944.1:c.-93+4858G>A	XP_016867433.1:n.-93+4858G>A
XM_017011945.1:c.-93+4858G>A	XP_016867434.1:n.-93+4858G>A
XR_928169.2:n.358-3352C>T
XR_928171.2:n.358-3352C>T