Canonical Allele Identifier: CA8114629

Gene: ACD

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67659046C>T , CM000678.2:g.67659046C>T	GRCh38
NC_000016.9:g.67692949C>T , CM000678.1:g.67692949C>T	GRCh37
NC_000016.8:g.66250450C>T	NCBI36
NG_042874.1:g.6770G>A
NG_054728.1:g.19128C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001082486.2:c.527G>A MANE Select	NP_001075955.2:p.Arg176Gln
ENST00000620761.6:c.527G>A MANE Select	ENSP00000478084.1:p.Arg176Gln
NM_001082486.1:c.785G>A	NP_001075955.1:p.Arg262Gln
NM_001082487.1:c.776G>A	NP_001075956.1:p.Arg259Gln
NM_022914.2:c.776G>A	NP_075065.2:p.Arg259Gln
NM_022914.3:c.518G>A	NP_075065.3:p.Arg173Gln
ENST00000219251.12:c.776G>A	ENSP00000219251.7:p.Arg259Gln
ENST00000219251.13:c.518G>A	ENSP00000219251.8:p.Arg173Gln
ENST00000393919.8:c.785G>A	ENSP00000377496.4:p.Arg262Gln
ENST00000602320.1:c.518G>A	ENSP00000473679.2:p.Arg173Gln
ENST00000602382.5:c.69G>A
ENST00000602382.6:c.527G>A	ENSP00000473313.2:p.Arg176Gln
ENST00000602519.2:n.1017G>A
ENST00000602622.5:n.1145G>A
ENST00000602780.2:n.1151G>A
ENST00000602850.5:c.358G>A	ENSP00000473595.2:n.358G>A
ENST00000602850.6:c.*307G>A	ENSP00000473595.3:n.*307G>A
ENST00000602860.5:n.965G>A
ENST00000602860.6:n.1447G>A
ENST00000602945.5:n.597G>A
ENST00000602945.6:n.669G>A
ENST00000620338.4:c.785G>A	ENSP00000483117.1:p.Arg262Gln
ENST00000620761.4:c.527G>A	ENSP00000478084.1:p.Arg176Gln
ENST00000695641.1:n.1444G>A
ENST00000695648.1:c.509G>A	ENSP00000512081.1:p.Arg170Gln
ENST00000695649.1:n.1520G>A
ENST00000695650.1:c.*289G>A	ENSP00000512082.1:n.*289G>A
ENST00000695656.1:n.974G>A
ENST00000695657.1:n.932G>A
ENST00000695658.1:c.527G>A	ENSP00000512088.1:p.Arg176Gln
ENST00000695659.1:c.527G>A	ENSP00000512089.1:p.Arg176Gln
ENST00000695660.1:n.1040G>A
ENST00000695661.1:c.*6G>A	ENSP00000512090.1:n.*6G>A
ENST00000695662.1:c.*6G>A	ENSP00000512091.1:n.*6G>A
ENST00000695694.1:c.482G>A	ENSP00000512105.1:p.Arg161Gln
ENST00000695695.1:n.593G>A
ENST00000695696.1:n.908G>A
ENST00000695697.1:c.527G>A	ENSP00000512106.1:p.Arg176Gln
ENST00000695698.1:n.777G>A
ENST00000695699.1:n.815G>A
ENST00000695700.1:n.892G>A
ENST00000695701.1:n.910G>A
ENST00000695702.1:n.642G>A
ENST00000695709.1:n.179G>A
ENST00000695710.1:n.780G>A
ENST00000695711.1:c.527G>A	ENSP00000512109.1:p.Arg176Gln
ENST00000695712.1:c.*277G>A	ENSP00000512110.1:n.*277G>A
ENST00000695713.1:c.156G>A	ENSP00000512111.1:n.156G>A
ENST00000695731.1:c.34G>A
ENST00000695732.1:c.527G>A	ENSP00000512125.1:p.Arg176Gln
ENST00000695733.1:c.527G>A	ENSP00000512126.1:p.Arg176Gln
ENST00000695734.1:c.527G>A	ENSP00000512127.1:p.Arg176Gln
ENST00000695735.1:n.34G>A
ENST00000695736.1:c.157+183G>A	ENSP00000512129.1:n.157+183G>A
XM_005256115.2:c.785G>A	XP_005256172.1:p.Arg262Gln
XM_005256115.4:c.785G>A	XP_005256172.1:p.Arg262Gln
XR_429727.2:n.1122G>A
XR_429727.3:n.1135G>A
XR_429728.2:n.1122G>A
XR_429728.3:n.1139G>A