Canonical Allele Identifier: CA496088275

Gene: ACD

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67660181G>T , CM000678.2:g.67660181G>T	GRCh38
NC_000016.9:g.67694084G>T , CM000678.1:g.67694084G>T	GRCh37
NC_000016.8:g.66251585G>T	NCBI36
NG_042874.1:g.5635C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001082486.2:c.40C>A MANE Select	NP_001075955.2:p.Arg14=
ENST00000620761.6:c.40C>A MANE Select	ENSP00000478084.1:p.Arg14=
NM_001082486.1:c.298C>A	NP_001075955.1:p.Arg100=
NM_001082487.1:c.298C>A	NP_001075956.1:p.Arg100=
NM_022914.2:c.298C>A	NP_075065.2:p.Arg100=
NM_022914.3:c.40C>A	NP_075065.3:p.Arg14=
ENST00000219251.12:c.298C>A	ENSP00000219251.7:p.Arg100=
ENST00000219251.13:c.40C>A	ENSP00000219251.8:p.Arg14=
ENST00000393919.8:c.298C>A	ENSP00000377496.4:p.Arg100=
ENST00000602320.1:c.40C>A	ENSP00000473679.2:p.Arg14=
ENST00000602382.6:c.40C>A	ENSP00000473313.2:p.Arg14=
ENST00000602423.1:n.84C>A
ENST00000602519.1:n.52C>A
ENST00000602519.2:n.65C>A
ENST00000602622.5:n.91C>A
ENST00000602780.1:n.123C>A
ENST00000602780.2:n.123C>A
ENST00000602821.1:n.91C>A
ENST00000602850.6:c.40C>A	ENSP00000473595.3:p.Arg14=
ENST00000602860.5:n.101C>A
ENST00000602860.6:n.583C>A
ENST00000602945.5:n.34C>A
ENST00000602945.6:n.106C>A
ENST00000620338.4:c.298C>A	ENSP00000483117.1:p.Arg100=
ENST00000620761.4:c.40C>A	ENSP00000478084.1:p.Arg14=
ENST00000695641.1:n.580C>A
ENST00000695648.1:c.40C>A	ENSP00000512081.1:p.Arg14=
ENST00000695649.1:n.580C>A
ENST00000695650.1:c.40C>A	ENSP00000512082.1:p.Arg14=
ENST00000695656.1:n.110C>A
ENST00000695657.1:n.68C>A
ENST00000695658.1:c.40C>A	ENSP00000512088.1:p.Arg14=
ENST00000695659.1:c.40C>A	ENSP00000512089.1:p.Arg14=
ENST00000695660.1:n.100C>A
ENST00000695661.1:c.40C>A	ENSP00000512090.1:p.Arg14=
ENST00000695662.1:c.40C>A	ENSP00000512091.1:p.Arg14=
ENST00000695663.1:n.96C>A
ENST00000695694.1:c.40C>A	ENSP00000512105.1:p.Arg14=
ENST00000695695.1:n.110C>A
ENST00000695696.1:n.44C>A
ENST00000695697.1:c.40C>A	ENSP00000512106.1:p.Arg14=
ENST00000695698.1:n.62C>A
ENST00000695699.1:n.68C>A
ENST00000695701.1:n.46C>A
ENST00000695711.1:c.40C>A	ENSP00000512109.1:p.Arg14=
ENST00000695712.1:c.40C>A	ENSP00000512110.1:p.Arg14=
ENST00000695732.1:c.40C>A	ENSP00000512125.1:p.Arg14=
ENST00000695733.1:c.40C>A	ENSP00000512126.1:p.Arg14=
ENST00000695734.1:c.40C>A	ENSP00000512127.1:p.Arg14=
XM_005256115.2:c.298C>A	XP_005256172.1:p.Arg100=
XM_005256115.4:c.298C>A	XP_005256172.1:p.Arg100=
XR_429727.2:n.635C>A
XR_429727.3:n.648C>A
XR_429728.2:n.635C>A
XR_429728.3:n.652C>A