Canonical Allele Identifier: CA4566090

Gene: AOC1

Linked Data

• ClinVar Variation Id: 2603027
• ClinVar RCV Id: RCV004348322
• dbSNP Id: rs536600538
• ExAC: 7:150554681 G / A
• gnomAD v2: 7-150554681-G-A
• gnomAD v3: 7-150857593-G-A
• gnomAD v4: 7-150857593-G-A
• MyVariant Identifiers: chr7:g.150554681G>A (hg19) ; chr7:g.150857593G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150857593G>A , CM000669.2:g.150857593G>A	GRCh38
NC_000007.13:g.150554681G>A , CM000669.1:g.150554681G>A	GRCh37
NC_000007.12:g.150185614G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360937.9:c.1123G>A MANE Select	ENSP00000354193.4:p.Gly375Ser
ENST00000360937.8:c.1123G>A	ENSP00000354193.4:p.Gly375Ser
ENST00000416793.6:c.1123G>A	ENSP00000411613.2:p.Gly375Ser
ENST00000467291.5:c.1123G>A	ENSP00000418328.1:p.Gly375Ser
ENST00000493429.5:c.1123G>A	ENSP00000418614.1:p.Gly375Ser
ENST00000619575.1:c.1120G>A	ENSP00000481717.1:p.Gly374Ser
ENST00000622116.4:c.-300G>A	ENSP00000481520.1:n.-300G>A
NM_001091.3:c.1123G>A	NP_001082.2:p.Gly375Ser
NM_001272072.1:c.1123G>A	NP_001259001.1:p.Gly375Ser
XM_011516008.1:c.1123G>A	XP_011514310.1:p.Gly375Ser
XM_011516009.1:c.1123G>A	XP_011514311.1:p.Gly375Ser
XR_928169.1:n.296-16148C>T
XR_928170.1:n.425+11023C>T
XR_928171.1:n.298-16148C>T
XM_017011944.1:c.1123G>A	XP_016867433.1:p.Gly375Ser
XM_017011945.1:c.1123G>A	XP_016867434.1:p.Gly375Ser
XM_017011946.2:c.1123G>A	XP_016867435.1:p.Gly375Ser
XM_017011947.1:c.1123G>A	XP_016867436.1:p.Gly375Ser
XR_928169.2:n.302-16148C>T
XR_928171.2:n.302-16148C>T
NM_001091.4:c.1123G>A MANE Select	NP_001082.2:p.Gly375Ser
NM_001272072.2:c.1123G>A	NP_001259001.1:p.Gly375Ser