Canonical Allele Identifier: CA396349718

Gene: ACD

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67657673T>C , CM000678.2:g.67657673T>C	GRCh38
NC_000016.9:g.67691576T>C , CM000678.1:g.67691576T>C	GRCh37
NC_000016.8:g.66249077T>C	NCBI36
NG_042874.1:g.8143A>G
NG_054728.1:g.17755T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000602382.6:c.976A>G	ENSP00000473313.2:p.Ser326Gly
ENST00000602780.2:n.2392A>G
ENST00000602860.6:n.2230A>G
ENST00000695641.1:n.2419A>G
ENST00000695648.1:c.1292A>G	ENSP00000512081.1:p.Gln431Arg
ENST00000695656.1:n.2347A>G
ENST00000695657.1:n.1628A>G
ENST00000695658.1:c.1133A>G	ENSP00000512088.1:p.Gln378Arg
ENST00000695659.1:c.1328A>G	ENSP00000512089.1:p.Gln443Arg
ENST00000695662.1:c.*789A>G	ENSP00000512091.1:n.*789A>G
ENST00000695694.1:c.1265A>G	ENSP00000512105.1:p.Gln422Arg
ENST00000695695.1:n.1376A>G
ENST00000695696.1:n.1357A>G
ENST00000695697.1:c.1223A>G	ENSP00000512106.1:p.Gln408Arg
ENST00000695698.1:n.1560A>G
ENST00000695709.1:n.585A>G
ENST00000695711.1:c.*618A>G	ENSP00000512109.1:n.*618A>G
ENST00000695712.1:c.*1060A>G	ENSP00000512110.1:n.*1060A>G
ENST00000695731.1:c.633A>G
ENST00000695732.1:c.749A>G	ENSP00000512125.1:p.Gln250Arg
ENST00000695733.1:c.889A>G	ENSP00000512126.1:p.Ser297Gly
ENST00000695734.1:c.1327A>G	ENSP00000512127.1:p.Ser443Gly
ENST00000219251.13:c.1301A>G	ENSP00000219251.8:p.Gln434Arg
ENST00000620761.6:c.1310A>G MANE Select	ENSP00000478084.1:p.Gln437Arg
ENST00000219251.12:c.1559A>G	ENSP00000219251.7:p.Gln520Arg
ENST00000393919.8:c.1568A>G	ENSP00000377496.4:p.Gln523Arg
ENST00000602320.1:c.1262A>G	ENSP00000473679.2:p.Gln421Arg
ENST00000602382.5:c.518A>G
ENST00000602622.5:n.2386A>G
ENST00000602656.1:n.574A>G
ENST00000602860.5:n.1748A>G
ENST00000620338.4:c.1568A>G	ENSP00000483117.1:p.Gln523Arg
ENST00000620761.4:c.1310A>G	ENSP00000478084.1:p.Gln437Arg
NM_001082486.1:c.1568A>G	NP_001075955.1:p.Gln523Arg
NM_001082487.1:c.1520A>G	NP_001075956.1:p.Gln507Arg
NM_022914.2:c.1559A>G	NP_075065.2:p.Gln520Arg
XM_005256115.2:c.1481A>G	XP_005256172.1:p.Gln494Arg
NM_001082486.2:c.1310A>G MANE Select	NP_001075955.2:p.Gln437Arg
NM_022914.3:c.1301A>G	NP_075065.3:p.Gln434Arg
XM_005256115.4:c.1481A>G	XP_005256172.1:p.Gln494Arg