Canonical Allele Identifier: CA2685597911

Gene: AOC1

Linked Data

• gnomAD v4: 7-150861339-A-C

Genomic Alleles

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

Transcript Alleles

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