Canonical Allele Identifier: CA396350040

Gene: ACD

Linked Data

• MyVariant Identifiers: chr16:g.67691744T>A (hg19) ; chr16:g.67657841T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67657841T>A , CM000678.2:g.67657841T>A	GRCh38
NC_000016.9:g.67691744T>A , CM000678.1:g.67691744T>A	GRCh37
NC_000016.8:g.66249245T>A	NCBI36
NG_042874.1:g.7975A>T
NG_054728.1:g.17923T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000602382.6:c.885A>T	ENSP00000473313.2:p.Arg295Ser
ENST00000602780.2:n.2224A>T
ENST00000602860.6:n.2139A>T
ENST00000695641.1:n.2328A>T
ENST00000695648.1:c.1201A>T	ENSP00000512081.1:p.Arg401Trp
ENST00000695656.1:n.2179A>T
ENST00000695657.1:n.1537A>T
ENST00000695658.1:c.1042A>T	ENSP00000512088.1:p.Arg348Trp
ENST00000695659.1:c.1237A>T	ENSP00000512089.1:p.Arg413Trp
ENST00000695662.1:c.*698A>T	ENSP00000512091.1:n.*698A>T
ENST00000695694.1:c.1174A>T	ENSP00000512105.1:p.Arg392Trp
ENST00000695695.1:n.1285A>T
ENST00000695696.1:n.1266A>T
ENST00000695697.1:c.1132A>T	ENSP00000512106.1:p.Arg378Trp
ENST00000695698.1:n.1469A>T
ENST00000695699.1:n.1639A>T
ENST00000695709.1:n.494A>T
ENST00000695710.1:n.1853A>T
ENST00000695711.1:c.*527A>T	ENSP00000512109.1:n.*527A>T
ENST00000695712.1:c.*969A>T	ENSP00000512110.1:n.*969A>T
ENST00000695731.1:c.542A>T
ENST00000695732.1:c.658A>T	ENSP00000512125.1:p.Arg220Trp
ENST00000695733.1:c.798A>T	ENSP00000512126.1:p.Arg266Ser
ENST00000695734.1:c.1219A>T	ENSP00000512127.1:p.Arg407Trp
ENST00000219251.13:c.1210A>T	ENSP00000219251.8:p.Arg404Trp
ENST00000620761.6:c.1219A>T MANE Select	ENSP00000478084.1:p.Arg407Trp
ENST00000219251.12:c.1468A>T	ENSP00000219251.7:p.Arg490Trp
ENST00000393919.8:c.1477A>T	ENSP00000377496.4:p.Arg493Trp
ENST00000602320.1:c.1198-27A>T	ENSP00000473679.2:n.1198-27A>T
ENST00000602382.5:c.427A>T
ENST00000602622.5:n.2218A>T
ENST00000602656.1:n.483A>T
ENST00000602860.5:n.1657A>T
ENST00000620338.4:c.1477A>T	ENSP00000483117.1:p.Arg493Trp
ENST00000620761.4:c.1219A>T	ENSP00000478084.1:p.Arg407Trp
NM_001082486.1:c.1477A>T	NP_001075955.1:p.Arg493Trp
NM_001082487.1:c.1456-27A>T	NP_001075956.1:n.1456-27A>T
NM_022914.2:c.1468A>T	NP_075065.2:p.Arg490Trp
XM_005256115.2:c.1390A>T	XP_005256172.1:p.Arg464Trp
NM_001082486.2:c.1219A>T MANE Select	NP_001075955.2:p.Arg407Trp
NM_022914.3:c.1210A>T	NP_075065.3:p.Arg404Trp
XM_005256115.4:c.1390A>T	XP_005256172.1:p.Arg464Trp