Canonical Allele Identifier: CA396349765
Gene: ACD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67657760A>G , CM000678.2:g.67657760A>G GRCh38
NC_000016.9:g.67691663A>G , CM000678.1:g.67691663A>G GRCh37
NC_000016.8:g.66249164A>G NCBI36
NG_042874.1:g.8056T>C
NG_054728.1:g.17842A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000602382.6:c.964+2T>C ENSP00000473313.2:n.964+2T>C
ENST00000602780.2:n.2305T>C
ENST00000602860.6:n.2218+2T>C
ENST00000695641.1:n.2407+2T>C
ENST00000695648.1:c.1280+2T>C ENSP00000512081.1:n.1280+2T>C
ENST00000695656.1:n.2260T>C
ENST00000695657.1:n.1616+2T>C
ENST00000695658.1:c.1121+2T>C ENSP00000512088.1:n.1121+2T>C
ENST00000695659.1:c.1316+2T>C ENSP00000512089.1:n.1316+2T>C
ENST00000695662.1:c.*777+2T>C ENSP00000512091.1:n.*777+2T>C
ENST00000695694.1:c.1253+2T>C ENSP00000512105.1:n.1253+2T>C
ENST00000695695.1:n.1364+2T>C
ENST00000695696.1:n.1345+2T>C
ENST00000695697.1:c.1211+2T>C ENSP00000512106.1:n.1211+2T>C
ENST00000695698.1:n.1548+2T>C
ENST00000695699.1:n.1720T>C
ENST00000695709.1:n.573+2T>C
ENST00000695711.1:c.*606+2T>C ENSP00000512109.1:n.*606+2T>C
ENST00000695712.1:c.*1048+2T>C ENSP00000512110.1:n.*1048+2T>C
ENST00000695731.1:c.621+2T>C
ENST00000695732.1:c.737+2T>C ENSP00000512125.1:n.737+2T>C
ENST00000695733.1:c.877+2T>C ENSP00000512126.1:n.877+2T>C
ENST00000695734.1:c.1298+2T>C ENSP00000512127.1:n.1298+2T>C
ENST00000219251.13:c.1289+2T>C ENSP00000219251.8:n.1289+2T>C
ENST00000620761.6:c.1298+2T>C MANE Select ENSP00000478084.1:n.1298+2T>C
ENST00000219251.12:c.1547+2T>C ENSP00000219251.7:n.1547+2T>C
ENST00000393919.8:c.1556+2T>C ENSP00000377496.4:n.1556+2T>C
ENST00000602320.1:c.1250+2T>C ENSP00000473679.2:n.1250+2T>C
ENST00000602382.5:c.506+2T>C
ENST00000602622.5:n.2299T>C
ENST00000602656.1:n.562+2T>C
ENST00000602860.5:n.1736+2T>C
ENST00000620338.4:c.1556+2T>C ENSP00000483117.1:n.1556+2T>C
ENST00000620761.4:c.1298+2T>C ENSP00000478084.1:n.1298+2T>C
NM_001082486.1:c.1556+2T>C NP_001075955.1:n.1556+2T>C
NM_001082487.1:c.1508+2T>C NP_001075956.1:n.1508+2T>C
NM_022914.2:c.1547+2T>C NP_075065.2:n.1547+2T>C
XM_005256115.2:c.1469+2T>C XP_005256172.1:n.1469+2T>C
NM_001082486.2:c.1298+2T>C MANE Select NP_001075955.2:n.1298+2T>C
NM_022914.3:c.1289+2T>C NP_075065.3:n.1289+2T>C
XM_005256115.4:c.1469+2T>C XP_005256172.1:n.1469+2T>C