Canonical Allele Identifier: CA396350001

Gene: ACD

Linked Data

• MyVariant Identifiers: chr16:g.67691733A>C (hg19) ; chr16:g.67657830A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67657830A>C , CM000678.2:g.67657830A>C	GRCh38
NC_000016.9:g.67691733A>C , CM000678.1:g.67691733A>C	GRCh37
NC_000016.8:g.66249234A>C	NCBI36
NG_042874.1:g.7986T>G
NG_054728.1:g.17912A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000602382.6:c.896T>G	ENSP00000473313.2:p.Met299Arg
ENST00000602780.2:n.2235T>G
ENST00000602860.6:n.2150T>G
ENST00000695641.1:n.2339T>G
ENST00000695648.1:c.1212T>G	ENSP00000512081.1:p.Asp404Glu
ENST00000695656.1:n.2190T>G
ENST00000695657.1:n.1548T>G
ENST00000695658.1:c.1053T>G	ENSP00000512088.1:p.Asp351Glu
ENST00000695659.1:c.1248T>G	ENSP00000512089.1:p.Asp416Glu
ENST00000695662.1:c.*709T>G	ENSP00000512091.1:n.*709T>G
ENST00000695694.1:c.1185T>G	ENSP00000512105.1:p.Asp395Glu
ENST00000695695.1:n.1296T>G
ENST00000695696.1:n.1277T>G
ENST00000695697.1:c.1143T>G	ENSP00000512106.1:p.Asp381Glu
ENST00000695698.1:n.1480T>G
ENST00000695699.1:n.1650T>G
ENST00000695709.1:n.505T>G
ENST00000695710.1:n.1864T>G
ENST00000695711.1:c.*538T>G	ENSP00000512109.1:n.*538T>G
ENST00000695712.1:c.*980T>G	ENSP00000512110.1:n.*980T>G
ENST00000695731.1:c.553T>G
ENST00000695732.1:c.669T>G	ENSP00000512125.1:p.Asp223Glu
ENST00000695733.1:c.809T>G	ENSP00000512126.1:p.Met270Arg
ENST00000695734.1:c.1230T>G	ENSP00000512127.1:p.Asp410Glu
ENST00000219251.13:c.1221T>G	ENSP00000219251.8:p.Asp407Glu
ENST00000620761.6:c.1230T>G MANE Select	ENSP00000478084.1:p.Asp410Glu
ENST00000219251.12:c.1479T>G	ENSP00000219251.7:p.Asp493Glu
ENST00000393919.8:c.1488T>G	ENSP00000377496.4:p.Asp496Glu
ENST00000602320.1:c.1198-16T>G	ENSP00000473679.2:n.1198-16T>G
ENST00000602382.5:c.438T>G
ENST00000602622.5:n.2229T>G
ENST00000602656.1:n.494T>G
ENST00000602860.5:n.1668T>G
ENST00000620338.4:c.1488T>G	ENSP00000483117.1:p.Asp496Glu
ENST00000620761.4:c.1230T>G	ENSP00000478084.1:p.Asp410Glu
NM_001082486.1:c.1488T>G	NP_001075955.1:p.Asp496Glu
NM_001082487.1:c.1456-16T>G	NP_001075956.1:n.1456-16T>G
NM_022914.2:c.1479T>G	NP_075065.2:p.Asp493Glu
XM_005256115.2:c.1401T>G	XP_005256172.1:p.Asp467Glu
NM_001082486.2:c.1230T>G MANE Select	NP_001075955.2:p.Asp410Glu
NM_022914.3:c.1221T>G	NP_075065.3:p.Asp407Glu
XM_005256115.4:c.1401T>G	XP_005256172.1:p.Asp467Glu