Canonical Allele Identifier: CA396349904

Gene: ACD

Linked Data

• MyVariant Identifiers: chr16:g.67691707T>G (hg19) ; chr16:g.67657804T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67657804T>G , CM000678.2:g.67657804T>G	GRCh38
NC_000016.9:g.67691707T>G , CM000678.1:g.67691707T>G	GRCh37
NC_000016.8:g.66249208T>G	NCBI36
NG_042874.1:g.8012A>C
NG_054728.1:g.17886T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000602382.6:c.922A>C	ENSP00000473313.2:p.Ser308Arg
ENST00000602780.2:n.2261A>C
ENST00000602860.6:n.2176A>C
ENST00000695641.1:n.2365A>C
ENST00000695648.1:c.1238A>C	ENSP00000512081.1:p.Glu413Ala
ENST00000695656.1:n.2216A>C
ENST00000695657.1:n.1574A>C
ENST00000695658.1:c.1079A>C	ENSP00000512088.1:p.Glu360Ala
ENST00000695659.1:c.1274A>C	ENSP00000512089.1:p.Glu425Ala
ENST00000695662.1:c.*735A>C	ENSP00000512091.1:n.*735A>C
ENST00000695694.1:c.1211A>C	ENSP00000512105.1:p.Glu404Ala
ENST00000695695.1:n.1322A>C
ENST00000695696.1:n.1303A>C
ENST00000695697.1:c.1169A>C	ENSP00000512106.1:p.Glu390Ala
ENST00000695698.1:n.1506A>C
ENST00000695699.1:n.1676A>C
ENST00000695709.1:n.531A>C
ENST00000695710.1:n.1890A>C
ENST00000695711.1:c.*564A>C	ENSP00000512109.1:n.*564A>C
ENST00000695712.1:c.*1006A>C	ENSP00000512110.1:n.*1006A>C
ENST00000695731.1:c.579A>C
ENST00000695732.1:c.695A>C	ENSP00000512125.1:p.Glu232Ala
ENST00000695733.1:c.835A>C	ENSP00000512126.1:p.Ser279Arg
ENST00000695734.1:c.1256A>C	ENSP00000512127.1:p.Glu419Ala
ENST00000219251.13:c.1247A>C	ENSP00000219251.8:p.Glu416Ala
ENST00000620761.6:c.1256A>C MANE Select	ENSP00000478084.1:p.Glu419Ala
ENST00000219251.12:c.1505A>C	ENSP00000219251.7:p.Glu502Ala
ENST00000393919.8:c.1514A>C	ENSP00000377496.4:p.Glu505Ala
ENST00000602320.1:c.1208A>C	ENSP00000473679.2:p.Glu403Ala
ENST00000602382.5:c.464A>C
ENST00000602622.5:n.2255A>C
ENST00000602656.1:n.520A>C
ENST00000602860.5:n.1694A>C
ENST00000620338.4:c.1514A>C	ENSP00000483117.1:p.Glu505Ala
ENST00000620761.4:c.1256A>C	ENSP00000478084.1:p.Glu419Ala
NM_001082486.1:c.1514A>C	NP_001075955.1:p.Glu505Ala
NM_001082487.1:c.1466A>C	NP_001075956.1:p.Glu489Ala
NM_022914.2:c.1505A>C	NP_075065.2:p.Glu502Ala
XM_005256115.2:c.1427A>C	XP_005256172.1:p.Glu476Ala
NM_001082486.2:c.1256A>C MANE Select	NP_001075955.2:p.Glu419Ala
NM_022914.3:c.1247A>C	NP_075065.3:p.Glu416Ala
XM_005256115.4:c.1427A>C	XP_005256172.1:p.Glu476Ala