Canonical Allele Identifier: CA396351674

Gene: ACD

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67658014C>G , CM000678.2:g.67658014C>G	GRCh38
NC_000016.9:g.67691917C>G , CM000678.1:g.67691917C>G	GRCh37
NC_000016.8:g.66249418C>G	NCBI36
NG_042874.1:g.7802G>C
NG_054728.1:g.18096C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001082486.2:c.1178G>C MANE Select	NP_001075955.2:p.Arg393Thr
ENST00000620761.6:c.1178G>C MANE Select	ENSP00000478084.1:p.Arg393Thr
NM_001082486.1:c.1436G>C	NP_001075955.1:p.Arg479Thr
NM_001082487.1:c.1427G>C	NP_001075956.1:p.Arg476Thr
NM_022914.2:c.1427G>C	NP_075065.2:p.Arg476Thr
NM_022914.3:c.1169G>C	NP_075065.3:p.Arg390Thr
ENST00000219251.12:c.1427G>C	ENSP00000219251.7:p.Arg476Thr
ENST00000219251.13:c.1169G>C	ENSP00000219251.8:p.Arg390Thr
ENST00000393919.8:c.1436G>C	ENSP00000377496.4:p.Arg479Thr
ENST00000602320.1:c.1169G>C	ENSP00000473679.2:p.Arg390Thr
ENST00000602382.5:c.386G>C
ENST00000602382.6:c.844G>C	ENSP00000473313.2:p.Gly282Arg
ENST00000602622.5:n.2177G>C
ENST00000602656.1:n.310G>C
ENST00000602780.2:n.2183G>C
ENST00000602860.5:n.1616G>C
ENST00000602860.6:n.2098G>C
ENST00000620338.4:c.1436G>C	ENSP00000483117.1:p.Arg479Thr
ENST00000620761.4:c.1178G>C	ENSP00000478084.1:p.Arg393Thr
ENST00000695641.1:n.2287G>C
ENST00000695648.1:c.1160G>C	ENSP00000512081.1:p.Arg387Thr
ENST00000695656.1:n.2006G>C
ENST00000695657.1:n.1496G>C
ENST00000695658.1:c.1001G>C	ENSP00000512088.1:p.Arg334Thr
ENST00000695659.1:c.1178G>C	ENSP00000512089.1:p.Arg393Thr
ENST00000695662.1:c.*657G>C	ENSP00000512091.1:n.*657G>C
ENST00000695694.1:c.1133G>C	ENSP00000512105.1:p.Arg378Thr
ENST00000695695.1:n.1244G>C
ENST00000695696.1:n.1225G>C
ENST00000695697.1:c.1091G>C	ENSP00000512106.1:p.Arg364Thr
ENST00000695698.1:n.1428G>C
ENST00000695699.1:n.1466G>C
ENST00000695709.1:n.482-161G>C
ENST00000695710.1:n.1812G>C
ENST00000695711.1:c.*486G>C	ENSP00000512109.1:n.*486G>C
ENST00000695712.1:c.*928G>C	ENSP00000512110.1:n.*928G>C
ENST00000695731.1:c.501G>C
ENST00000695732.1:c.646-161G>C	ENSP00000512125.1:n.646-161G>C
ENST00000695733.1:c.757G>C	ENSP00000512126.1:p.Gly253Arg
ENST00000695734.1:c.1178G>C	ENSP00000512127.1:p.Arg393Thr
ENST00000695735.1:n.588G>C
XM_005256115.2:c.1349G>C	XP_005256172.1:p.Arg450Thr
XM_005256115.4:c.1349G>C	XP_005256172.1:p.Arg450Thr
XR_429727.2:n.1789G>C
XR_429727.3:n.1802G>C