Canonical Allele Identifier: CA8114467

Gene: ACD

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67658195C>T , CM000678.2:g.67658195C>T	GRCh38
NC_000016.9:g.67692098C>T , CM000678.1:g.67692098C>T	GRCh37
NC_000016.8:g.66249599C>T	NCBI36
NG_042874.1:g.7621G>A
NG_054728.1:g.18277C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000602382.6:c.830-167G>A	ENSP00000473313.2:n.830-167G>A
ENST00000602780.2:n.2002G>A
ENST00000602850.6:c.*777G>A	ENSP00000473595.3:n.*777G>A
ENST00000602860.6:n.1917G>A
ENST00000695641.1:n.2106G>A
ENST00000695648.1:c.979G>A	ENSP00000512081.1:p.Ala327Thr
ENST00000695656.1:n.1825G>A
ENST00000695657.1:n.1315G>A
ENST00000695658.1:c.986+11G>A	ENSP00000512088.1:n.986+11G>A
ENST00000695659.1:c.997G>A	ENSP00000512089.1:p.Ala333Thr
ENST00000695660.1:n.1621G>A
ENST00000695662.1:c.*476G>A	ENSP00000512091.1:n.*476G>A
ENST00000695694.1:c.952G>A	ENSP00000512105.1:p.Ala318Thr
ENST00000695695.1:n.1063G>A
ENST00000695696.1:n.1211-167G>A
ENST00000695697.1:c.910G>A	ENSP00000512106.1:p.Ala304Thr
ENST00000695698.1:n.1247G>A
ENST00000695699.1:n.1285G>A
ENST00000695700.1:n.1554G>A
ENST00000695709.1:n.482-342G>A
ENST00000695710.1:n.1631G>A
ENST00000695711.1:c.*305G>A	ENSP00000512109.1:n.*305G>A
ENST00000695712.1:c.*747G>A	ENSP00000512110.1:n.*747G>A
ENST00000695731.1:c.320G>A
ENST00000695732.1:c.646-342G>A	ENSP00000512125.1:n.646-342G>A
ENST00000695733.1:c.743-167G>A	ENSP00000512126.1:n.743-167G>A
ENST00000695734.1:c.997G>A	ENSP00000512127.1:p.Ala333Thr
ENST00000695735.1:n.407G>A
ENST00000219251.13:c.988G>A	ENSP00000219251.8:p.Ala330Thr
ENST00000620761.6:c.997G>A MANE Select	ENSP00000478084.1:p.Ala333Thr
ENST00000219251.12:c.1246G>A	ENSP00000219251.7:p.Ala416Thr
ENST00000393919.8:c.1255G>A	ENSP00000377496.4:p.Ala419Thr
ENST00000602320.1:c.988G>A	ENSP00000473679.2:p.Ala330Thr
ENST00000602382.5:c.372-167G>A
ENST00000602622.5:n.1996G>A
ENST00000602656.1:n.129G>A
ENST00000602850.5:c.828G>A	ENSP00000473595.2:n.828G>A
ENST00000602860.5:n.1435G>A
ENST00000620338.4:c.1255G>A	ENSP00000483117.1:p.Ala419Thr
ENST00000620761.4:c.997G>A	ENSP00000478084.1:p.Ala333Thr
NM_001082486.1:c.1255G>A	NP_001075955.1:p.Ala419Thr
NM_001082487.1:c.1246G>A	NP_001075956.1:p.Ala416Thr
NM_022914.2:c.1246G>A	NP_075065.2:p.Ala416Thr
XM_005256115.2:c.1168G>A	XP_005256172.1:p.Ala390Thr
XR_429727.2:n.1608G>A
NM_001082486.2:c.997G>A MANE Select	NP_001075955.2:p.Ala333Thr
NM_022914.3:c.988G>A	NP_075065.3:p.Ala330Thr
XM_005256115.4:c.1168G>A	XP_005256172.1:p.Ala390Thr
XR_429727.3:n.1621G>A