Canonical Allele Identifier: CA8114464

Gene: ACD

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67658188C>T , CM000678.2:g.67658188C>T	GRCh38
NC_000016.9:g.67692091C>T , CM000678.1:g.67692091C>T	GRCh37
NC_000016.8:g.66249592C>T	NCBI36
NG_042874.1:g.7628G>A
NG_054728.1:g.18270C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001082486.2:c.1004G>A MANE Select	NP_001075955.2:p.Arg335His
ENST00000620761.6:c.1004G>A MANE Select	ENSP00000478084.1:p.Arg335His
NM_001082486.1:c.1262G>A	NP_001075955.1:p.Arg421His
NM_001082487.1:c.1253G>A	NP_001075956.1:p.Arg418His
NM_022914.2:c.1253G>A	NP_075065.2:p.Arg418His
NM_022914.3:c.995G>A	NP_075065.3:p.Arg332His
ENST00000219251.12:c.1253G>A	ENSP00000219251.7:p.Arg418His
ENST00000219251.13:c.995G>A	ENSP00000219251.8:p.Arg332His
ENST00000393919.8:c.1262G>A	ENSP00000377496.4:p.Arg421His
ENST00000602320.1:c.995G>A	ENSP00000473679.2:p.Arg332His
ENST00000602382.5:c.372-160G>A
ENST00000602382.6:c.830-160G>A	ENSP00000473313.2:n.830-160G>A
ENST00000602622.5:n.2003G>A
ENST00000602656.1:n.136G>A
ENST00000602780.2:n.2009G>A
ENST00000602850.5:c.835G>A	ENSP00000473595.2:n.835G>A
ENST00000602850.6:c.*784G>A	ENSP00000473595.3:n.*784G>A
ENST00000602860.5:n.1442G>A
ENST00000602860.6:n.1924G>A
ENST00000620338.4:c.1262G>A	ENSP00000483117.1:p.Arg421His
ENST00000620761.4:c.1004G>A	ENSP00000478084.1:p.Arg335His
ENST00000695641.1:n.2113G>A
ENST00000695648.1:c.986G>A	ENSP00000512081.1:p.Arg329His
ENST00000695656.1:n.1832G>A
ENST00000695657.1:n.1322G>A
ENST00000695658.1:c.986+18G>A	ENSP00000512088.1:n.986+18G>A
ENST00000695659.1:c.1004G>A	ENSP00000512089.1:p.Arg335His
ENST00000695660.1:n.1628G>A
ENST00000695662.1:c.*483G>A	ENSP00000512091.1:n.*483G>A
ENST00000695694.1:c.959G>A	ENSP00000512105.1:p.Arg320His
ENST00000695695.1:n.1070G>A
ENST00000695696.1:n.1211-160G>A
ENST00000695697.1:c.917G>A	ENSP00000512106.1:p.Arg306His
ENST00000695698.1:n.1254G>A
ENST00000695699.1:n.1292G>A
ENST00000695700.1:n.1561G>A
ENST00000695709.1:n.482-335G>A
ENST00000695710.1:n.1638G>A
ENST00000695711.1:c.*312G>A	ENSP00000512109.1:n.*312G>A
ENST00000695712.1:c.*754G>A	ENSP00000512110.1:n.*754G>A
ENST00000695731.1:c.327G>A
ENST00000695732.1:c.646-335G>A	ENSP00000512125.1:n.646-335G>A
ENST00000695733.1:c.743-160G>A	ENSP00000512126.1:n.743-160G>A
ENST00000695734.1:c.1004G>A	ENSP00000512127.1:p.Arg335His
ENST00000695735.1:n.414G>A
XM_005256115.2:c.1175G>A	XP_005256172.1:p.Arg392His
XM_005256115.4:c.1175G>A	XP_005256172.1:p.Arg392His
XR_429727.2:n.1615G>A
XR_429727.3:n.1628G>A