Canonical Allele Identifier: CA2685597830

Gene: AOC1

Linked Data

• gnomAD v4: 7-150861308-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150861308T>G , CM000669.2:g.150861308T>G	GRCh38
NC_000007.13:g.150558396T>G , CM000669.1:g.150558396T>G	GRCh37
NC_000007.12:g.150189329T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360937.9:c.*99T>G MANE Select	ENSP00000354193.4:n.*99T>G
ENST00000360937.8:c.*99T>G	ENSP00000354193.4:n.*99T>G
ENST00000467291.5:c.*99T>G	ENSP00000418328.1:n.*99T>G
ENST00000493429.5:c.*99T>G	ENSP00000418614.1:n.*99T>G
XR_928169.1:n.295+15701A>C
XR_928170.1:n.425+7308A>C
XR_928171.1:n.297+15701A>C
XR_928169.2:n.301+15701A>C
XR_928171.2:n.301+15701A>C
NM_001091.4:c.*99T>G MANE Select	NP_001082.2:n.*99T>G
NM_001272072.2:c.*99T>G	NP_001259001.1:n.*99T>G