Canonical Allele Identifier: CA496087610

Gene: ACD

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67657651G>A , CM000678.2:g.67657651G>A	GRCh38
NC_000016.9:g.67691554G>A , CM000678.1:g.67691554G>A	GRCh37
NC_000016.8:g.66249055G>A	NCBI36
NG_042874.1:g.8165C>T
NG_054728.1:g.17733G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001082486.2:c.1332C>T MANE Select	NP_001075955.2:p.His444=
ENST00000620761.6:c.1332C>T MANE Select	ENSP00000478084.1:p.His444=
NM_001082486.1:c.1590C>T	NP_001075955.1:p.His530=
NM_001082487.1:c.1542C>T	NP_001075956.1:p.His514=
NM_022914.2:c.1581C>T	NP_075065.2:p.His527=
NM_022914.3:c.1323C>T	NP_075065.3:p.His441=
ENST00000219251.12:c.1581C>T	ENSP00000219251.7:p.His527=
ENST00000219251.13:c.1323C>T	ENSP00000219251.8:p.His441=
ENST00000393919.8:c.1590C>T	ENSP00000377496.4:p.His530=
ENST00000602320.1:c.1284C>T	ENSP00000473679.2:p.His428=
ENST00000602382.5:c.540C>T
ENST00000602382.6:c.998C>T	ENSP00000473313.2:p.Thr333Ile
ENST00000602622.5:n.2408C>T
ENST00000602656.1:n.596C>T
ENST00000602780.2:n.2414C>T
ENST00000602860.5:n.1770C>T
ENST00000602860.6:n.2252C>T
ENST00000620338.4:c.1590C>T	ENSP00000483117.1:p.His530=
ENST00000620761.4:c.1332C>T	ENSP00000478084.1:p.His444=
ENST00000695641.1:n.2441C>T
ENST00000695648.1:c.1314C>T	ENSP00000512081.1:p.His438=
ENST00000695656.1:n.2369C>T
ENST00000695657.1:n.1650C>T
ENST00000695658.1:c.1155C>T	ENSP00000512088.1:p.His385=
ENST00000695659.1:c.1350C>T	ENSP00000512089.1:p.His450=
ENST00000695662.1:c.*811C>T	ENSP00000512091.1:n.*811C>T
ENST00000695694.1:c.1287C>T	ENSP00000512105.1:p.His429=
ENST00000695695.1:n.1398C>T
ENST00000695696.1:n.1379C>T
ENST00000695697.1:c.1245C>T	ENSP00000512106.1:p.His415=
ENST00000695698.1:n.1582C>T
ENST00000695709.1:n.607C>T
ENST00000695711.1:c.*640C>T	ENSP00000512109.1:n.*640C>T
ENST00000695712.1:c.*1082C>T	ENSP00000512110.1:n.*1082C>T
ENST00000695731.1:c.655C>T
ENST00000695732.1:c.771C>T	ENSP00000512125.1:p.His257=
ENST00000695733.1:c.911C>T	ENSP00000512126.1:p.Thr304Ile
ENST00000695734.1:c.1349C>T	ENSP00000512127.1:p.Thr450Ile
XM_005256115.2:c.1503C>T	XP_005256172.1:p.His501=
XM_005256115.4:c.1503C>T	XP_005256172.1:p.His501=