Canonical Allele Identifier: CA8114368

Gene: ACD

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67657684C>T , CM000678.2:g.67657684C>T	GRCh38
NC_000016.9:g.67691587C>T , CM000678.1:g.67691587C>T	GRCh37
NC_000016.8:g.66249088C>T	NCBI36
NG_042874.1:g.8132G>A
NG_054728.1:g.17766C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001082486.2:c.1299G>A MANE Select	NP_001075955.2:p.Arg433=
ENST00000620761.6:c.1299G>A MANE Select	ENSP00000478084.1:p.Arg433=
NM_001082486.1:c.1557G>A	NP_001075955.1:p.Arg519=
NM_001082487.1:c.1509G>A	NP_001075956.1:p.Arg503=
NM_022914.2:c.1548G>A	NP_075065.2:p.Arg516=
NM_022914.3:c.1290G>A	NP_075065.3:p.Arg430=
ENST00000219251.12:c.1548G>A	ENSP00000219251.7:p.Arg516=
ENST00000219251.13:c.1290G>A	ENSP00000219251.8:p.Arg430=
ENST00000393919.8:c.1557G>A	ENSP00000377496.4:p.Arg519=
ENST00000602320.1:c.1251G>A	ENSP00000473679.2:p.Arg417=
ENST00000602382.5:c.507G>A
ENST00000602382.6:c.965G>A	ENSP00000473313.2:p.Gly322Asp
ENST00000602622.5:n.2375G>A
ENST00000602656.1:n.563G>A
ENST00000602780.2:n.2381G>A
ENST00000602860.5:n.1737G>A
ENST00000602860.6:n.2219G>A
ENST00000620338.4:c.1557G>A	ENSP00000483117.1:p.Arg519=
ENST00000620761.4:c.1299G>A	ENSP00000478084.1:p.Arg433=
ENST00000695641.1:n.2408G>A
ENST00000695648.1:c.1281G>A	ENSP00000512081.1:p.Arg427=
ENST00000695656.1:n.2336G>A
ENST00000695657.1:n.1617G>A
ENST00000695658.1:c.1122G>A	ENSP00000512088.1:p.Arg374=
ENST00000695659.1:c.1317G>A	ENSP00000512089.1:p.Arg439=
ENST00000695662.1:c.*778G>A	ENSP00000512091.1:n.*778G>A
ENST00000695694.1:c.1254G>A	ENSP00000512105.1:p.Arg418=
ENST00000695695.1:n.1365G>A
ENST00000695696.1:n.1346G>A
ENST00000695697.1:c.1212G>A	ENSP00000512106.1:p.Arg404=
ENST00000695698.1:n.1549G>A
ENST00000695709.1:n.574G>A
ENST00000695711.1:c.*607G>A	ENSP00000512109.1:n.*607G>A
ENST00000695712.1:c.*1049G>A	ENSP00000512110.1:n.*1049G>A
ENST00000695731.1:c.622G>A
ENST00000695732.1:c.738G>A	ENSP00000512125.1:p.Arg246=
ENST00000695733.1:c.878G>A	ENSP00000512126.1:p.Gly293Asp
ENST00000695734.1:c.1316G>A	ENSP00000512127.1:p.Gly439Asp
XM_005256115.2:c.1470G>A	XP_005256172.1:p.Arg490=
XM_005256115.4:c.1470G>A	XP_005256172.1:p.Arg490=