Canonical Allele Identifier: CA396349746

Gene: ACD

Linked Data

• ClinVar Variation Id: 1775181
• ClinVar RCV Id: RCV002405334
• MyVariant Identifiers: chr16:g.67691587C>A (hg19) ; chr16:g.67657684C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67657684C>A , CM000678.2:g.67657684C>A	GRCh38
NC_000016.9:g.67691587C>A , CM000678.1:g.67691587C>A	GRCh37
NC_000016.8:g.66249088C>A	NCBI36
NG_042874.1:g.8132G>T
NG_054728.1:g.17766C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000602382.6:c.965G>T	ENSP00000473313.2:p.Gly322Val
ENST00000602780.2:n.2381G>T
ENST00000602860.6:n.2219G>T
ENST00000695641.1:n.2408G>T
ENST00000695648.1:c.1281G>T	ENSP00000512081.1:p.Arg427Ser
ENST00000695656.1:n.2336G>T
ENST00000695657.1:n.1617G>T
ENST00000695658.1:c.1122G>T	ENSP00000512088.1:p.Arg374Ser
ENST00000695659.1:c.1317G>T	ENSP00000512089.1:p.Arg439Ser
ENST00000695662.1:c.*778G>T	ENSP00000512091.1:n.*778G>T
ENST00000695694.1:c.1254G>T	ENSP00000512105.1:p.Arg418Ser
ENST00000695695.1:n.1365G>T
ENST00000695696.1:n.1346G>T
ENST00000695697.1:c.1212G>T	ENSP00000512106.1:p.Arg404Ser
ENST00000695698.1:n.1549G>T
ENST00000695709.1:n.574G>T
ENST00000695711.1:c.*607G>T	ENSP00000512109.1:n.*607G>T
ENST00000695712.1:c.*1049G>T	ENSP00000512110.1:n.*1049G>T
ENST00000695731.1:c.622G>T
ENST00000695732.1:c.738G>T	ENSP00000512125.1:p.Arg246Ser
ENST00000695733.1:c.878G>T	ENSP00000512126.1:p.Gly293Val
ENST00000695734.1:c.1316G>T	ENSP00000512127.1:p.Gly439Val
ENST00000219251.13:c.1290G>T	ENSP00000219251.8:p.Arg430Ser
ENST00000620761.6:c.1299G>T MANE Select	ENSP00000478084.1:p.Arg433Ser
ENST00000219251.12:c.1548G>T	ENSP00000219251.7:p.Arg516Ser
ENST00000393919.8:c.1557G>T	ENSP00000377496.4:p.Arg519Ser
ENST00000602320.1:c.1251G>T	ENSP00000473679.2:p.Arg417Ser
ENST00000602382.5:c.507G>T
ENST00000602622.5:n.2375G>T
ENST00000602656.1:n.563G>T
ENST00000602860.5:n.1737G>T
ENST00000620338.4:c.1557G>T	ENSP00000483117.1:p.Arg519Ser
ENST00000620761.4:c.1299G>T	ENSP00000478084.1:p.Arg433Ser
NM_001082486.1:c.1557G>T	NP_001075955.1:p.Arg519Ser
NM_001082487.1:c.1509G>T	NP_001075956.1:p.Arg503Ser
NM_022914.2:c.1548G>T	NP_075065.2:p.Arg516Ser
XM_005256115.2:c.1470G>T	XP_005256172.1:p.Arg490Ser
NM_001082486.2:c.1299G>T MANE Select	NP_001075955.2:p.Arg433Ser
NM_022914.3:c.1290G>T	NP_075065.3:p.Arg430Ser
XM_005256115.4:c.1470G>T	XP_005256172.1:p.Arg490Ser