Canonical Allele Identifier: CA2229422981

Gene: ACD

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67657765A= , CM000678.2:g.67657765A=	GRCh38
NC_000016.9:g.67691668A= , CM000678.1:g.67691668A=	GRCh37
NC_000016.8:g.66249169A=	NCBI36
NG_042874.1:g.8051T=
NG_054728.1:g.17847A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000602382.6:c.961T=	ENSP00000473313.2:p.Ser321=
ENST00000602780.2:n.2300T=
ENST00000602860.6:n.2215T=
ENST00000695641.1:n.2404T=
ENST00000695648.1:c.1277T=	ENSP00000512081.1:p.Val426=
ENST00000695656.1:n.2255T=
ENST00000695657.1:n.1613T=
ENST00000695658.1:c.1118T=	ENSP00000512088.1:p.Val373=
ENST00000695659.1:c.1313T=	ENSP00000512089.1:p.Val438=
ENST00000695662.1:c.*774T=	ENSP00000512091.1:n.*774T=
ENST00000695694.1:c.1250T=	ENSP00000512105.1:p.Val417=
ENST00000695695.1:n.1361T=
ENST00000695696.1:n.1342T=
ENST00000695697.1:c.1208T=	ENSP00000512106.1:p.Val403=
ENST00000695698.1:n.1545T=
ENST00000695699.1:n.1715T=
ENST00000695709.1:n.570T=
ENST00000695711.1:c.*603T=	ENSP00000512109.1:n.*603T=
ENST00000695712.1:c.*1045T=	ENSP00000512110.1:n.*1045T=
ENST00000695731.1:c.618T=
ENST00000695732.1:c.734T=	ENSP00000512125.1:p.Val245=
ENST00000695733.1:c.874T=	ENSP00000512126.1:p.Ser292=
ENST00000695734.1:c.1295T=	ENSP00000512127.1:p.Val432=
ENST00000219251.13:c.1286T=	ENSP00000219251.8:p.Val429=
ENST00000620761.6:c.1295T= MANE Select	ENSP00000478084.1:p.Val432=
ENST00000219251.12:c.1544T=	ENSP00000219251.7:p.Val515=
ENST00000393919.8:c.1553T=	ENSP00000377496.4:p.Val518=
ENST00000602320.1:c.1247T=	ENSP00000473679.2:p.Val416=
ENST00000602382.5:c.503T=
ENST00000602622.5:n.2294T=
ENST00000602656.1:n.559T=
ENST00000602860.5:n.1733T=
ENST00000620338.4:c.1553T=	ENSP00000483117.1:p.Val518=
ENST00000620761.4:c.1295T=	ENSP00000478084.1:p.Val432=
NM_001082486.1:c.1553T=	NP_001075955.1:p.Val518=
NM_001082487.1:c.1505T=	NP_001075956.1:p.Val502=
NM_022914.2:c.1544T=	NP_075065.2:p.Val515=
XM_005256115.2:c.1466T=	XP_005256172.1:p.Val489=
NM_001082486.2:c.1295T= MANE Select	NP_001075955.2:p.Val432=
NM_022914.3:c.1286T=	NP_075065.3:p.Val429=
XM_005256115.4:c.1466T=	XP_005256172.1:p.Val489=