Canonical Allele Identifier: CA8114434

Gene: ACD

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67658044C>T , CM000678.2:g.67658044C>T	GRCh38
NC_000016.9:g.67691947C>T , CM000678.1:g.67691947C>T	GRCh37
NC_000016.8:g.66249448C>T	NCBI36
NG_042874.1:g.7772G>A
NG_054728.1:g.18126C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001082486.2:c.1148G>A MANE Select	NP_001075955.2:p.Arg383Gln
ENST00000620761.6:c.1148G>A MANE Select	ENSP00000478084.1:p.Arg383Gln
NM_001082486.1:c.1406G>A	NP_001075955.1:p.Arg469Gln
NM_001082487.1:c.1397G>A	NP_001075956.1:p.Arg466Gln
NM_022914.2:c.1397G>A	NP_075065.2:p.Arg466Gln
NM_022914.3:c.1139G>A	NP_075065.3:p.Arg380Gln
ENST00000219251.12:c.1397G>A	ENSP00000219251.7:p.Arg466Gln
ENST00000219251.13:c.1139G>A	ENSP00000219251.8:p.Arg380Gln
ENST00000393919.8:c.1406G>A	ENSP00000377496.4:p.Arg469Gln
ENST00000602320.1:c.1139G>A	ENSP00000473679.2:p.Arg380Gln
ENST00000602382.5:c.372-16G>A
ENST00000602382.6:c.830-16G>A	ENSP00000473313.2:n.830-16G>A
ENST00000602622.5:n.2147G>A
ENST00000602656.1:n.280G>A
ENST00000602780.2:n.2153G>A
ENST00000602860.5:n.1586G>A
ENST00000602860.6:n.2068G>A
ENST00000620338.4:c.1406G>A	ENSP00000483117.1:p.Arg469Gln
ENST00000620761.4:c.1148G>A	ENSP00000478084.1:p.Arg383Gln
ENST00000695641.1:n.2257G>A
ENST00000695648.1:c.1130G>A	ENSP00000512081.1:p.Arg377Gln
ENST00000695656.1:n.1976G>A
ENST00000695657.1:n.1466G>A
ENST00000695658.1:c.987-16G>A	ENSP00000512088.1:n.987-16G>A
ENST00000695659.1:c.1148G>A	ENSP00000512089.1:p.Arg383Gln
ENST00000695662.1:c.*627G>A	ENSP00000512091.1:n.*627G>A
ENST00000695694.1:c.1103G>A	ENSP00000512105.1:p.Arg368Gln
ENST00000695695.1:n.1214G>A
ENST00000695696.1:n.1211-16G>A
ENST00000695697.1:c.1061G>A	ENSP00000512106.1:p.Arg354Gln
ENST00000695698.1:n.1398G>A
ENST00000695699.1:n.1436G>A
ENST00000695709.1:n.482-191G>A
ENST00000695710.1:n.1782G>A
ENST00000695711.1:c.*456G>A	ENSP00000512109.1:n.*456G>A
ENST00000695712.1:c.*898G>A	ENSP00000512110.1:n.*898G>A
ENST00000695731.1:c.471G>A
ENST00000695732.1:c.646-191G>A	ENSP00000512125.1:n.646-191G>A
ENST00000695733.1:c.743-16G>A	ENSP00000512126.1:n.743-16G>A
ENST00000695734.1:c.1148G>A	ENSP00000512127.1:p.Arg383Gln
ENST00000695735.1:n.558G>A
XM_005256115.2:c.1319G>A	XP_005256172.1:p.Arg440Gln
XM_005256115.4:c.1319G>A	XP_005256172.1:p.Arg440Gln
XR_429727.2:n.1759G>A
XR_429727.3:n.1772G>A