Canonical Allele Identifier: CA396349972
Gene: ACD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67657822G>T , CM000678.2:g.67657822G>T GRCh38
NC_000016.9:g.67691725G>T , CM000678.1:g.67691725G>T GRCh37
NC_000016.8:g.66249226G>T NCBI36
NG_042874.1:g.7994C>A
NG_054728.1:g.17904G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000602382.6:c.904C>A ENSP00000473313.2:p.Pro302Thr
ENST00000602780.2:n.2243C>A
ENST00000602860.6:n.2158C>A
ENST00000695641.1:n.2347C>A
ENST00000695648.1:c.1220C>A ENSP00000512081.1:p.Ala407Asp
ENST00000695656.1:n.2198C>A
ENST00000695657.1:n.1556C>A
ENST00000695658.1:c.1061C>A ENSP00000512088.1:p.Ala354Asp
ENST00000695659.1:c.1256C>A ENSP00000512089.1:p.Ala419Asp
ENST00000695662.1:c.*717C>A ENSP00000512091.1:n.*717C>A
ENST00000695694.1:c.1193C>A ENSP00000512105.1:p.Ala398Asp
ENST00000695695.1:n.1304C>A
ENST00000695696.1:n.1285C>A
ENST00000695697.1:c.1151C>A ENSP00000512106.1:p.Ala384Asp
ENST00000695698.1:n.1488C>A
ENST00000695699.1:n.1658C>A
ENST00000695709.1:n.513C>A
ENST00000695710.1:n.1872C>A
ENST00000695711.1:c.*546C>A ENSP00000512109.1:n.*546C>A
ENST00000695712.1:c.*988C>A ENSP00000512110.1:n.*988C>A
ENST00000695731.1:c.561C>A
ENST00000695732.1:c.677C>A ENSP00000512125.1:p.Ala226Asp
ENST00000695733.1:c.817C>A ENSP00000512126.1:p.Pro273Thr
ENST00000695734.1:c.1238C>A ENSP00000512127.1:p.Ala413Asp
ENST00000219251.13:c.1229C>A ENSP00000219251.8:p.Ala410Asp
ENST00000620761.6:c.1238C>A MANE Select ENSP00000478084.1:p.Ala413Asp
ENST00000219251.12:c.1487C>A ENSP00000219251.7:p.Ala496Asp
ENST00000393919.8:c.1496C>A ENSP00000377496.4:p.Ala499Asp
ENST00000602320.1:c.1198-8C>A ENSP00000473679.2:n.1198-8C>A
ENST00000602382.5:c.446C>A
ENST00000602622.5:n.2237C>A
ENST00000602656.1:n.502C>A
ENST00000602860.5:n.1676C>A
ENST00000620338.4:c.1496C>A ENSP00000483117.1:p.Ala499Asp
ENST00000620761.4:c.1238C>A ENSP00000478084.1:p.Ala413Asp
NM_001082486.1:c.1496C>A NP_001075955.1:p.Ala499Asp
NM_001082487.1:c.1456-8C>A NP_001075956.1:n.1456-8C>A
NM_022914.2:c.1487C>A NP_075065.2:p.Ala496Asp
XM_005256115.2:c.1409C>A XP_005256172.1:p.Ala470Asp
NM_001082486.2:c.1238C>A MANE Select NP_001075955.2:p.Ala413Asp
NM_022914.3:c.1229C>A NP_075065.3:p.Ala410Asp
XM_005256115.4:c.1409C>A XP_005256172.1:p.Ala470Asp