Canonical Allele Identifier: CA579075096

Gene: AOC1

Linked Data

• dbSNP Id: rs752040763
• gnomAD v2: 7-150553529-C-T
• gnomAD v4: 7-150856441-C-T
• MyVariant Identifiers: chr7:g.150553529C>T (hg19) ; chr7:g.150856441C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150856441C>T , CM000669.2:g.150856441C>T	GRCh38
NC_000007.13:g.150553529C>T , CM000669.1:g.150553529C>T	GRCh37
NC_000007.12:g.150184462C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000360937.9:c.-16-14C>T MANE Select	ENSP00000354193.4:n.-16-14C>T
ENST00000360937.8:c.-16-14C>T	ENSP00000354193.4:n.-16-14C>T
ENST00000416793.6:c.-16-14C>T	ENSP00000411613.2:n.-16-14C>T
ENST00000460213.1:c.-16-14C>T	ENSP00000418557.1:n.-16-14C>T
ENST00000467291.5:c.-16-14C>T	ENSP00000418328.1:n.-16-14C>T
ENST00000483043.1:c.-16-14C>T	ENSP00000417392.1:n.-16-14C>T
ENST00000493429.5:c.-16-14C>T	ENSP00000418614.1:n.-16-14C>T
ENST00000619575.1:c.-16-14C>T	ENSP00000481717.1:n.-16-14C>T
ENST00000622116.4:c.-1438-14C>T	ENSP00000481520.1:n.-1438-14C>T
NM_001091.3:c.-16-14C>T	NP_001082.2:n.-16-14C>T
NM_001272072.1:c.-16-14C>T	NP_001259001.1:n.-16-14C>T
XM_011516008.1:c.-16-14C>T	XP_011514310.1:n.-16-14C>T
XM_011516009.1:c.-16-14C>T	XP_011514311.1:n.-16-14C>T
XR_928169.1:n.296-14996G>A
XR_928170.1:n.425+12175G>A
XR_928171.1:n.298-14996G>A
XM_017011944.1:c.-16-14C>T	XP_016867433.1:n.-16-14C>T
XM_017011945.1:c.-16-14C>T	XP_016867434.1:n.-16-14C>T
XM_017011946.2:c.-16-14C>T	XP_016867435.1:n.-16-14C>T
XM_017011947.1:c.-16-14C>T	XP_016867436.1:n.-16-14C>T
XR_928169.2:n.302-14996G>A
XR_928171.2:n.302-14996G>A
NM_001091.4:c.-16-14C>T MANE Select	NP_001082.2:n.-16-14C>T
NM_001272072.2:c.-16-14C>T	NP_001259001.1:n.-16-14C>T