Canonical Allele Identifier: CA496087653

Gene: ACD

Linked Data

• MyVariant Identifiers: chr16:g.67691584A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67657681A>C , CM000678.2:g.67657681A>C	GRCh38
NC_000016.9:g.67691584A>C , CM000678.1:g.67691584A>C	GRCh37
NC_000016.8:g.66249085A>C	NCBI36
NG_042874.1:g.8135T>G
NG_054728.1:g.17763A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000602382.6:c.968T>G	ENSP00000473313.2:p.Phe323Cys
ENST00000602780.2:n.2384T>G
ENST00000602860.6:n.2222T>G
ENST00000695641.1:n.2411T>G
ENST00000695648.1:c.1284T>G	ENSP00000512081.1:p.Leu428=
ENST00000695656.1:n.2339T>G
ENST00000695657.1:n.1620T>G
ENST00000695658.1:c.1125T>G	ENSP00000512088.1:p.Leu375=
ENST00000695659.1:c.1320T>G	ENSP00000512089.1:p.Leu440=
ENST00000695662.1:c.*781T>G	ENSP00000512091.1:n.*781T>G
ENST00000695694.1:c.1257T>G	ENSP00000512105.1:p.Leu419=
ENST00000695695.1:n.1368T>G
ENST00000695696.1:n.1349T>G
ENST00000695697.1:c.1215T>G	ENSP00000512106.1:p.Leu405=
ENST00000695698.1:n.1552T>G
ENST00000695709.1:n.577T>G
ENST00000695711.1:c.*610T>G	ENSP00000512109.1:n.*610T>G
ENST00000695712.1:c.*1052T>G	ENSP00000512110.1:n.*1052T>G
ENST00000695731.1:c.625T>G
ENST00000695732.1:c.741T>G	ENSP00000512125.1:p.Leu247=
ENST00000695733.1:c.881T>G	ENSP00000512126.1:p.Phe294Cys
ENST00000695734.1:c.1319T>G	ENSP00000512127.1:p.Phe440Cys
ENST00000219251.13:c.1293T>G	ENSP00000219251.8:p.Leu431=
ENST00000620761.6:c.1302T>G MANE Select	ENSP00000478084.1:p.Leu434=
ENST00000219251.12:c.1551T>G	ENSP00000219251.7:p.Leu517=
ENST00000393919.8:c.1560T>G	ENSP00000377496.4:p.Leu520=
ENST00000602320.1:c.1254T>G	ENSP00000473679.2:p.Leu418=
ENST00000602382.5:c.510T>G
ENST00000602622.5:n.2378T>G
ENST00000602656.1:n.566T>G
ENST00000602860.5:n.1740T>G
ENST00000620338.4:c.1560T>G	ENSP00000483117.1:p.Leu520=
ENST00000620761.4:c.1302T>G	ENSP00000478084.1:p.Leu434=
NM_001082486.1:c.1560T>G	NP_001075955.1:p.Leu520=
NM_001082487.1:c.1512T>G	NP_001075956.1:p.Leu504=
NM_022914.2:c.1551T>G	NP_075065.2:p.Leu517=
XM_005256115.2:c.1473T>G	XP_005256172.1:p.Leu491=
NM_001082486.2:c.1302T>G MANE Select	NP_001075955.2:p.Leu434=
NM_022914.3:c.1293T>G	NP_075065.3:p.Leu431=
XM_005256115.4:c.1473T>G	XP_005256172.1:p.Leu491=