Canonical Allele Identifier: CA396350079

Gene: ACD

Linked Data

• MyVariant Identifiers: chr16:g.67691756C>G (hg19) ; chr16:g.67657853C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67657853C>G , CM000678.2:g.67657853C>G	GRCh38
NC_000016.9:g.67691756C>G , CM000678.1:g.67691756C>G	GRCh37
NC_000016.8:g.66249257C>G	NCBI36
NG_042874.1:g.7963G>C
NG_054728.1:g.17935C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000602382.6:c.873G>C	ENSP00000473313.2:p.Gly291=
ENST00000602780.2:n.2212G>C
ENST00000602860.6:n.2127G>C
ENST00000695641.1:n.2316G>C
ENST00000695648.1:c.1189G>C	ENSP00000512081.1:p.Glu397Gln
ENST00000695656.1:n.2167G>C
ENST00000695657.1:n.1525G>C
ENST00000695658.1:c.1030G>C	ENSP00000512088.1:p.Glu344Gln
ENST00000695659.1:c.1225G>C	ENSP00000512089.1:p.Glu409Gln
ENST00000695662.1:c.*686G>C	ENSP00000512091.1:n.*686G>C
ENST00000695694.1:c.1162G>C	ENSP00000512105.1:p.Glu388Gln
ENST00000695695.1:n.1273G>C
ENST00000695696.1:n.1254G>C
ENST00000695697.1:c.1120G>C	ENSP00000512106.1:p.Glu374Gln
ENST00000695698.1:n.1457G>C
ENST00000695699.1:n.1627G>C
ENST00000695709.1:n.482G>C
ENST00000695710.1:n.1841G>C
ENST00000695711.1:c.*515G>C	ENSP00000512109.1:n.*515G>C
ENST00000695712.1:c.*957G>C	ENSP00000512110.1:n.*957G>C
ENST00000695731.1:c.530G>C
ENST00000695732.1:c.646G>C	ENSP00000512125.1:p.Glu216Gln
ENST00000695733.1:c.786G>C	ENSP00000512126.1:p.Gly262=
ENST00000695734.1:c.1207G>C	ENSP00000512127.1:p.Glu403Gln
ENST00000219251.13:c.1198G>C	ENSP00000219251.8:p.Glu400Gln
ENST00000620761.6:c.1207G>C MANE Select	ENSP00000478084.1:p.Glu403Gln
ENST00000219251.12:c.1456G>C	ENSP00000219251.7:p.Glu486Gln
ENST00000393919.8:c.1465G>C	ENSP00000377496.4:p.Glu489Gln
ENST00000602320.1:c.1198-39G>C	ENSP00000473679.2:n.1198-39G>C
ENST00000602382.5:c.415G>C
ENST00000602622.5:n.2206G>C
ENST00000602656.1:n.471G>C
ENST00000602860.5:n.1645G>C
ENST00000620338.4:c.1465G>C	ENSP00000483117.1:p.Glu489Gln
ENST00000620761.4:c.1207G>C	ENSP00000478084.1:p.Glu403Gln
NM_001082486.1:c.1465G>C	NP_001075955.1:p.Glu489Gln
NM_001082487.1:c.1456-39G>C	NP_001075956.1:n.1456-39G>C
NM_022914.2:c.1456G>C	NP_075065.2:p.Glu486Gln
XM_005256115.2:c.1378G>C	XP_005256172.1:p.Glu460Gln
NM_001082486.2:c.1207G>C MANE Select	NP_001075955.2:p.Glu403Gln
NM_022914.3:c.1198G>C	NP_075065.3:p.Glu400Gln
XM_005256115.4:c.1378G>C	XP_005256172.1:p.Glu460Gln