Canonical Allele Identifier: CA369847790

Gene: AOC1

Linked Data

• gnomAD v4: 7-150857445-C-T
• MyVariant Identifiers: chr7:g.150554533C>T (hg19) ; chr7:g.150857445C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150857445C>T , CM000669.2:g.150857445C>T	GRCh38
NC_000007.13:g.150554533C>T , CM000669.1:g.150554533C>T	GRCh37
NC_000007.12:g.150185466C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360937.9:c.975C>T MANE Select	ENSP00000354193.4:p.Ala325=
ENST00000360937.8:c.975C>T	ENSP00000354193.4:p.Ala325=
ENST00000416793.6:c.975C>T	ENSP00000411613.2:p.Ala325=
ENST00000467291.5:c.975C>T	ENSP00000418328.1:p.Ala325=
ENST00000483043.1:c.975C>T	ENSP00000417392.1:p.Ala325=
ENST00000493429.5:c.975C>T	ENSP00000418614.1:p.Ala325=
ENST00000619575.1:c.973C>T	ENSP00000481717.1:p.Leu325Phe
ENST00000622116.4:c.-448C>T	ENSP00000481520.1:n.-448C>T
NM_001091.3:c.975C>T	NP_001082.2:p.Ala325=
NM_001272072.1:c.975C>T	NP_001259001.1:p.Ala325=
XM_011516008.1:c.975C>T	XP_011514310.1:p.Ala325=
XM_011516009.1:c.975C>T	XP_011514311.1:p.Ala325=
XR_928169.1:n.296-16000G>A
XR_928170.1:n.425+11171G>A
XR_928171.1:n.298-16000G>A
XM_017011944.1:c.975C>T	XP_016867433.1:p.Ala325=
XM_017011945.1:c.975C>T	XP_016867434.1:p.Ala325=
XM_017011946.2:c.975C>T	XP_016867435.1:p.Ala325=
XM_017011947.1:c.975C>T	XP_016867436.1:p.Ala325=
XR_928169.2:n.302-16000G>A
XR_928171.2:n.302-16000G>A
NM_001091.4:c.975C>T MANE Select	NP_001082.2:p.Ala325=
NM_001272072.2:c.975C>T	NP_001259001.1:p.Ala325=