Canonical Allele Identifier: CA496087554

Gene: ACD

Linked Data

• ClinVar Variation Id: 1774305
• ClinVar RCV Id: RCV002392307
• MyVariant Identifiers: chr16:g.67691706C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67657803C>T , CM000678.2:g.67657803C>T	GRCh38
NC_000016.9:g.67691706C>T , CM000678.1:g.67691706C>T	GRCh37
NC_000016.8:g.66249207C>T	NCBI36
NG_042874.1:g.8013G>A
NG_054728.1:g.17885C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000602382.6:c.923G>A	ENSP00000473313.2:p.Ser308Asn
ENST00000602780.2:n.2262G>A
ENST00000602860.6:n.2177G>A
ENST00000695641.1:n.2366G>A
ENST00000695648.1:c.1239G>A	ENSP00000512081.1:p.Glu413=
ENST00000695656.1:n.2217G>A
ENST00000695657.1:n.1575G>A
ENST00000695658.1:c.1080G>A	ENSP00000512088.1:p.Glu360=
ENST00000695659.1:c.1275G>A	ENSP00000512089.1:p.Glu425=
ENST00000695662.1:c.*736G>A	ENSP00000512091.1:n.*736G>A
ENST00000695694.1:c.1212G>A	ENSP00000512105.1:p.Glu404=
ENST00000695695.1:n.1323G>A
ENST00000695696.1:n.1304G>A
ENST00000695697.1:c.1170G>A	ENSP00000512106.1:p.Glu390=
ENST00000695698.1:n.1507G>A
ENST00000695699.1:n.1677G>A
ENST00000695709.1:n.532G>A
ENST00000695710.1:n.1891G>A
ENST00000695711.1:c.*565G>A	ENSP00000512109.1:n.*565G>A
ENST00000695712.1:c.*1007G>A	ENSP00000512110.1:n.*1007G>A
ENST00000695731.1:c.580G>A
ENST00000695732.1:c.696G>A	ENSP00000512125.1:p.Glu232=
ENST00000695733.1:c.836G>A	ENSP00000512126.1:p.Ser279Asn
ENST00000695734.1:c.1257G>A	ENSP00000512127.1:p.Glu419=
ENST00000219251.13:c.1248G>A	ENSP00000219251.8:p.Glu416=
ENST00000620761.6:c.1257G>A MANE Select	ENSP00000478084.1:p.Glu419=
ENST00000219251.12:c.1506G>A	ENSP00000219251.7:p.Glu502=
ENST00000393919.8:c.1515G>A	ENSP00000377496.4:p.Glu505=
ENST00000602320.1:c.1209G>A	ENSP00000473679.2:p.Glu403=
ENST00000602382.5:c.465G>A
ENST00000602622.5:n.2256G>A
ENST00000602656.1:n.521G>A
ENST00000602860.5:n.1695G>A
ENST00000620338.4:c.1515G>A	ENSP00000483117.1:p.Glu505=
ENST00000620761.4:c.1257G>A	ENSP00000478084.1:p.Glu419=
NM_001082486.1:c.1515G>A	NP_001075955.1:p.Glu505=
NM_001082487.1:c.1467G>A	NP_001075956.1:p.Glu489=
NM_022914.2:c.1506G>A	NP_075065.2:p.Glu502=
XM_005256115.2:c.1428G>A	XP_005256172.1:p.Glu476=
NM_001082486.2:c.1257G>A MANE Select	NP_001075955.2:p.Glu419=
NM_022914.3:c.1248G>A	NP_075065.3:p.Glu416=
XM_005256115.4:c.1428G>A	XP_005256172.1:p.Glu476=