Canonical Allele Identifier: CA396349969

Gene: ACD

Linked Data

• ClinVar Variation Id: 1350898
• ClinVar RCV Id: RCV002042212
• dbSNP Id: rs2052901178
• MyVariant Identifiers: chr16:g.67691725G>A (hg19) ; chr16:g.67657822G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67657822G>A , CM000678.2:g.67657822G>A	GRCh38
NC_000016.9:g.67691725G>A , CM000678.1:g.67691725G>A	GRCh37
NC_000016.8:g.66249226G>A	NCBI36
NG_042874.1:g.7994C>T
NG_054728.1:g.17904G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000602382.6:c.904C>T	ENSP00000473313.2:p.Pro302Ser
ENST00000602780.2:n.2243C>T
ENST00000602860.6:n.2158C>T
ENST00000695641.1:n.2347C>T
ENST00000695648.1:c.1220C>T	ENSP00000512081.1:p.Ala407Val
ENST00000695656.1:n.2198C>T
ENST00000695657.1:n.1556C>T
ENST00000695658.1:c.1061C>T	ENSP00000512088.1:p.Ala354Val
ENST00000695659.1:c.1256C>T	ENSP00000512089.1:p.Ala419Val
ENST00000695662.1:c.*717C>T	ENSP00000512091.1:n.*717C>T
ENST00000695694.1:c.1193C>T	ENSP00000512105.1:p.Ala398Val
ENST00000695695.1:n.1304C>T
ENST00000695696.1:n.1285C>T
ENST00000695697.1:c.1151C>T	ENSP00000512106.1:p.Ala384Val
ENST00000695698.1:n.1488C>T
ENST00000695699.1:n.1658C>T
ENST00000695709.1:n.513C>T
ENST00000695710.1:n.1872C>T
ENST00000695711.1:c.*546C>T	ENSP00000512109.1:n.*546C>T
ENST00000695712.1:c.*988C>T	ENSP00000512110.1:n.*988C>T
ENST00000695731.1:c.561C>T
ENST00000695732.1:c.677C>T	ENSP00000512125.1:p.Ala226Val
ENST00000695733.1:c.817C>T	ENSP00000512126.1:p.Pro273Ser
ENST00000695734.1:c.1238C>T	ENSP00000512127.1:p.Ala413Val
ENST00000219251.13:c.1229C>T	ENSP00000219251.8:p.Ala410Val
ENST00000620761.6:c.1238C>T MANE Select	ENSP00000478084.1:p.Ala413Val
ENST00000219251.12:c.1487C>T	ENSP00000219251.7:p.Ala496Val
ENST00000393919.8:c.1496C>T	ENSP00000377496.4:p.Ala499Val
ENST00000602320.1:c.1198-8C>T	ENSP00000473679.2:n.1198-8C>T
ENST00000602382.5:c.446C>T
ENST00000602622.5:n.2237C>T
ENST00000602656.1:n.502C>T
ENST00000602860.5:n.1676C>T
ENST00000620338.4:c.1496C>T	ENSP00000483117.1:p.Ala499Val
ENST00000620761.4:c.1238C>T	ENSP00000478084.1:p.Ala413Val
NM_001082486.1:c.1496C>T	NP_001075955.1:p.Ala499Val
NM_001082487.1:c.1456-8C>T	NP_001075956.1:n.1456-8C>T
NM_022914.2:c.1487C>T	NP_075065.2:p.Ala496Val
XM_005256115.2:c.1409C>T	XP_005256172.1:p.Ala470Val
NM_001082486.2:c.1238C>T MANE Select	NP_001075955.2:p.Ala413Val
NM_022914.3:c.1229C>T	NP_075065.3:p.Ala410Val
XM_005256115.4:c.1409C>T	XP_005256172.1:p.Ala470Val