Canonical Allele Identifier: CA8114425

Gene: ACD

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67658024C>T , CM000678.2:g.67658024C>T	GRCh38
NC_000016.9:g.67691927C>T , CM000678.1:g.67691927C>T	GRCh37
NC_000016.8:g.66249428C>T	NCBI36
NG_042874.1:g.7792G>A
NG_054728.1:g.18106C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001082486.2:c.1168G>A MANE Select	NP_001075955.2:p.Gly390Arg
ENST00000620761.6:c.1168G>A MANE Select	ENSP00000478084.1:p.Gly390Arg
NM_001082486.1:c.1426G>A	NP_001075955.1:p.Gly476Arg
NM_001082487.1:c.1417G>A	NP_001075956.1:p.Gly473Arg
NM_022914.2:c.1417G>A	NP_075065.2:p.Gly473Arg
NM_022914.3:c.1159G>A	NP_075065.3:p.Gly387Arg
ENST00000219251.12:c.1417G>A	ENSP00000219251.7:p.Gly473Arg
ENST00000219251.13:c.1159G>A	ENSP00000219251.8:p.Gly387Arg
ENST00000393919.8:c.1426G>A	ENSP00000377496.4:p.Gly476Arg
ENST00000602320.1:c.1159G>A	ENSP00000473679.2:p.Gly387Arg
ENST00000602382.5:c.376G>A
ENST00000602382.6:c.834G>A	ENSP00000473313.2:p.Pro278=
ENST00000602622.5:n.2167G>A
ENST00000602656.1:n.300G>A
ENST00000602780.2:n.2173G>A
ENST00000602860.5:n.1606G>A
ENST00000602860.6:n.2088G>A
ENST00000620338.4:c.1426G>A	ENSP00000483117.1:p.Gly476Arg
ENST00000620761.4:c.1168G>A	ENSP00000478084.1:p.Gly390Arg
ENST00000695641.1:n.2277G>A
ENST00000695648.1:c.1150G>A	ENSP00000512081.1:p.Gly384Arg
ENST00000695656.1:n.1996G>A
ENST00000695657.1:n.1486G>A
ENST00000695658.1:c.991G>A	ENSP00000512088.1:p.Gly331Arg
ENST00000695659.1:c.1168G>A	ENSP00000512089.1:p.Gly390Arg
ENST00000695662.1:c.*647G>A	ENSP00000512091.1:n.*647G>A
ENST00000695694.1:c.1123G>A	ENSP00000512105.1:p.Gly375Arg
ENST00000695695.1:n.1234G>A
ENST00000695696.1:n.1215G>A
ENST00000695697.1:c.1081G>A	ENSP00000512106.1:p.Gly361Arg
ENST00000695698.1:n.1418G>A
ENST00000695699.1:n.1456G>A
ENST00000695709.1:n.482-171G>A
ENST00000695710.1:n.1802G>A
ENST00000695711.1:c.*476G>A	ENSP00000512109.1:n.*476G>A
ENST00000695712.1:c.*918G>A	ENSP00000512110.1:n.*918G>A
ENST00000695731.1:c.491G>A
ENST00000695732.1:c.646-171G>A	ENSP00000512125.1:n.646-171G>A
ENST00000695733.1:c.747G>A	ENSP00000512126.1:p.Pro249=
ENST00000695734.1:c.1168G>A	ENSP00000512127.1:p.Gly390Arg
ENST00000695735.1:n.578G>A
XM_005256115.2:c.1339G>A	XP_005256172.1:p.Gly447Arg
XM_005256115.4:c.1339G>A	XP_005256172.1:p.Gly447Arg
XR_429727.2:n.1779G>A
XR_429727.3:n.1792G>A