Canonical Allele Identifier: CA8114435

Gene: ACD

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67658045G>A , CM000678.2:g.67658045G>A	GRCh38
NC_000016.9:g.67691948G>A , CM000678.1:g.67691948G>A	GRCh37
NC_000016.8:g.66249449G>A	NCBI36
NG_042874.1:g.7771C>T
NG_054728.1:g.18127G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001082486.2:c.1147C>T MANE Select	NP_001075955.2:p.Arg383Trp
ENST00000620761.6:c.1147C>T MANE Select	ENSP00000478084.1:p.Arg383Trp
NM_001082486.1:c.1405C>T	NP_001075955.1:p.Arg469Trp
NM_001082487.1:c.1396C>T	NP_001075956.1:p.Arg466Trp
NM_022914.2:c.1396C>T	NP_075065.2:p.Arg466Trp
NM_022914.3:c.1138C>T	NP_075065.3:p.Arg380Trp
ENST00000219251.12:c.1396C>T	ENSP00000219251.7:p.Arg466Trp
ENST00000219251.13:c.1138C>T	ENSP00000219251.8:p.Arg380Trp
ENST00000393919.8:c.1405C>T	ENSP00000377496.4:p.Arg469Trp
ENST00000602320.1:c.1138C>T	ENSP00000473679.2:p.Arg380Trp
ENST00000602382.5:c.372-17C>T
ENST00000602382.6:c.830-17C>T	ENSP00000473313.2:n.830-17C>T
ENST00000602622.5:n.2146C>T
ENST00000602656.1:n.279C>T
ENST00000602780.2:n.2152C>T
ENST00000602860.5:n.1585C>T
ENST00000602860.6:n.2067C>T
ENST00000620338.4:c.1405C>T	ENSP00000483117.1:p.Arg469Trp
ENST00000620761.4:c.1147C>T	ENSP00000478084.1:p.Arg383Trp
ENST00000695641.1:n.2256C>T
ENST00000695648.1:c.1129C>T	ENSP00000512081.1:p.Arg377Trp
ENST00000695656.1:n.1975C>T
ENST00000695657.1:n.1465C>T
ENST00000695658.1:c.987-17C>T	ENSP00000512088.1:n.987-17C>T
ENST00000695659.1:c.1147C>T	ENSP00000512089.1:p.Arg383Trp
ENST00000695662.1:c.*626C>T	ENSP00000512091.1:n.*626C>T
ENST00000695694.1:c.1102C>T	ENSP00000512105.1:p.Arg368Trp
ENST00000695695.1:n.1213C>T
ENST00000695696.1:n.1211-17C>T
ENST00000695697.1:c.1060C>T	ENSP00000512106.1:p.Arg354Trp
ENST00000695698.1:n.1397C>T
ENST00000695699.1:n.1435C>T
ENST00000695709.1:n.482-192C>T
ENST00000695710.1:n.1781C>T
ENST00000695711.1:c.*455C>T	ENSP00000512109.1:n.*455C>T
ENST00000695712.1:c.*897C>T	ENSP00000512110.1:n.*897C>T
ENST00000695731.1:c.470C>T
ENST00000695732.1:c.646-192C>T	ENSP00000512125.1:n.646-192C>T
ENST00000695733.1:c.743-17C>T	ENSP00000512126.1:n.743-17C>T
ENST00000695734.1:c.1147C>T	ENSP00000512127.1:p.Arg383Trp
ENST00000695735.1:n.557C>T
XM_005256115.2:c.1318C>T	XP_005256172.1:p.Arg440Trp
XM_005256115.4:c.1318C>T	XP_005256172.1:p.Arg440Trp
XR_429727.2:n.1758C>T
XR_429727.3:n.1771C>T