Canonical Allele Identifier: CA1752388388

Gene: AOC1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150861197T= , CM000669.2:g.150861197T=	GRCh38
NC_000007.13:g.150558285T= , CM000669.1:g.150558285T=	GRCh37
NC_000007.12:g.150189218T=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360937.9:c.2244T= MANE Select	ENSP00000354193.4:p.Tyr748=
ENST00000360937.8:c.2244T=	ENSP00000354193.4:p.Tyr748=
ENST00000416793.6:c.2301T=	ENSP00000411613.2:p.Tyr767=
ENST00000467291.5:c.2244T=	ENSP00000418328.1:p.Tyr748=
ENST00000480582.1:n.921T=
ENST00000493429.5:c.2244T=	ENSP00000418614.1:p.Tyr748=
ENST00000619575.1:c.*101T=	ENSP00000481717.1:n.*101T=
ENST00000622116.4:c.*236T=	ENSP00000481520.1:n.*236T=
NM_001091.3:c.2244T=	NP_001082.2:p.Tyr748=
NM_001272072.1:c.2301T=	NP_001259001.1:p.Tyr767=
XM_011516008.1:c.2301T=	XP_011514310.1:p.Tyr767=
XM_011516009.1:c.2244T=	XP_011514311.1:p.Tyr748=
XR_928169.1:n.295+15812A=
XR_928170.1:n.425+7419A=
XR_928171.1:n.297+15812A=
XM_017011944.1:c.2301T=	XP_016867433.1:p.Tyr767=
XM_017011945.1:c.2301T=	XP_016867434.1:p.Tyr767=
XM_017011946.2:c.2301T=	XP_016867435.1:p.Tyr767=
XM_017011947.1:c.2244T=	XP_016867436.1:p.Tyr748=
XR_928169.2:n.301+15812A=
XR_928171.2:n.301+15812A=
NM_001091.4:c.2244T= MANE Select	NP_001082.2:p.Tyr748=
NM_001272072.2:c.2301T=	NP_001259001.1:p.Tyr767=