Canonical Allele Identifier: CA2685597883

Gene: AOC1

Linked Data

• gnomAD v4: 7-150861325-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150861325C>T , CM000669.2:g.150861325C>T	GRCh38
NC_000007.13:g.150558413C>T , CM000669.1:g.150558413C>T	GRCh37
NC_000007.12:g.150189346C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360937.9:c.*116C>T MANE Select	ENSP00000354193.4:n.*116C>T
ENST00000360937.8:c.*116C>T	ENSP00000354193.4:n.*116C>T
ENST00000467291.5:c.*116C>T	ENSP00000418328.1:n.*116C>T
ENST00000493429.5:c.*116C>T	ENSP00000418614.1:n.*116C>T
XR_928169.1:n.295+15684G>A
XR_928170.1:n.425+7291G>A
XR_928171.1:n.297+15684G>A
XR_928169.2:n.301+15684G>A
XR_928171.2:n.301+15684G>A
NM_001091.4:c.*116C>T MANE Select	NP_001082.2:n.*116C>T
NM_001272072.2:c.*116C>T	NP_001259001.1:n.*116C>T