Canonical Allele Identifier: CA396349848

Gene: ACD

Linked Data

• ClinVar Variation Id: 1774708
• ClinVar RCV Id: RCV002403032
• dbSNP Id: rs1445369071
• gnomAD v2: 16-67691686-C-T
• gnomAD v4: 16-67657783-C-T
• MyVariant Identifiers: chr16:g.67691686C>T (hg19) ; chr16:g.67657783C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67657783C>T , CM000678.2:g.67657783C>T	GRCh38
NC_000016.9:g.67691686C>T , CM000678.1:g.67691686C>T	GRCh37
NC_000016.8:g.66249187C>T	NCBI36
NG_042874.1:g.8033G>A
NG_054728.1:g.17865C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000602382.6:c.943G>A	ENSP00000473313.2:p.Val315Met
ENST00000602780.2:n.2282G>A
ENST00000602860.6:n.2197G>A
ENST00000695641.1:n.2386G>A
ENST00000695648.1:c.1259G>A	ENSP00000512081.1:p.Cys420Tyr
ENST00000695656.1:n.2237G>A
ENST00000695657.1:n.1595G>A
ENST00000695658.1:c.1100G>A	ENSP00000512088.1:p.Cys367Tyr
ENST00000695659.1:c.1295G>A	ENSP00000512089.1:p.Cys432Tyr
ENST00000695662.1:c.*756G>A	ENSP00000512091.1:n.*756G>A
ENST00000695694.1:c.1232G>A	ENSP00000512105.1:p.Cys411Tyr
ENST00000695695.1:n.1343G>A
ENST00000695696.1:n.1324G>A
ENST00000695697.1:c.1190G>A	ENSP00000512106.1:p.Cys397Tyr
ENST00000695698.1:n.1527G>A
ENST00000695699.1:n.1697G>A
ENST00000695709.1:n.552G>A
ENST00000695710.1:n.1911G>A
ENST00000695711.1:c.*585G>A	ENSP00000512109.1:n.*585G>A
ENST00000695712.1:c.*1027G>A	ENSP00000512110.1:n.*1027G>A
ENST00000695731.1:c.600G>A
ENST00000695732.1:c.716G>A	ENSP00000512125.1:p.Cys239Tyr
ENST00000695733.1:c.856G>A	ENSP00000512126.1:p.Val286Met
ENST00000695734.1:c.1277G>A	ENSP00000512127.1:p.Cys426Tyr
ENST00000219251.13:c.1268G>A	ENSP00000219251.8:p.Cys423Tyr
ENST00000620761.6:c.1277G>A MANE Select	ENSP00000478084.1:p.Cys426Tyr
ENST00000219251.12:c.1526G>A	ENSP00000219251.7:p.Cys509Tyr
ENST00000393919.8:c.1535G>A	ENSP00000377496.4:p.Cys512Tyr
ENST00000602320.1:c.1229G>A	ENSP00000473679.2:p.Cys410Tyr
ENST00000602382.5:c.485G>A
ENST00000602622.5:n.2276G>A
ENST00000602656.1:n.541G>A
ENST00000602860.5:n.1715G>A
ENST00000620338.4:c.1535G>A	ENSP00000483117.1:p.Cys512Tyr
ENST00000620761.4:c.1277G>A	ENSP00000478084.1:p.Cys426Tyr
NM_001082486.1:c.1535G>A	NP_001075955.1:p.Cys512Tyr
NM_001082487.1:c.1487G>A	NP_001075956.1:p.Cys496Tyr
NM_022914.2:c.1526G>A	NP_075065.2:p.Cys509Tyr
XM_005256115.2:c.1448G>A	XP_005256172.1:p.Cys483Tyr
NM_001082486.2:c.1277G>A MANE Select	NP_001075955.2:p.Cys426Tyr
NM_022914.3:c.1268G>A	NP_075065.3:p.Cys423Tyr
XM_005256115.4:c.1448G>A	XP_005256172.1:p.Cys483Tyr