Canonical Allele Identifier: CA8114608

Gene: ACD

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67658956T>G , CM000678.2:g.67658956T>G	GRCh38
NC_000016.9:g.67692859T>G , CM000678.1:g.67692859T>G	GRCh37
NC_000016.8:g.66250360T>G	NCBI36
NG_042874.1:g.6860A>C
NG_054728.1:g.19038T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001082486.2:c.617A>C MANE Select	NP_001075955.2:p.His206Pro
ENST00000620761.6:c.617A>C MANE Select	ENSP00000478084.1:p.His206Pro
NM_001082486.1:c.875A>C	NP_001075955.1:p.His292Pro
NM_001082487.1:c.866A>C	NP_001075956.1:p.His289Pro
NM_022914.2:c.866A>C	NP_075065.2:p.His289Pro
NM_022914.3:c.608A>C	NP_075065.3:p.His203Pro
ENST00000219251.12:c.866A>C	ENSP00000219251.7:p.His289Pro
ENST00000219251.13:c.608A>C	ENSP00000219251.8:p.His203Pro
ENST00000393919.8:c.875A>C	ENSP00000377496.4:p.His292Pro
ENST00000602320.1:c.608A>C	ENSP00000473679.2:p.His203Pro
ENST00000602382.5:c.159A>C
ENST00000602382.6:c.617A>C	ENSP00000473313.2:p.His206Pro
ENST00000602519.2:n.1107A>C
ENST00000602622.5:n.1235A>C
ENST00000602780.2:n.1241A>C
ENST00000602850.5:c.448A>C	ENSP00000473595.2:n.448A>C
ENST00000602850.6:c.*397A>C	ENSP00000473595.3:n.*397A>C
ENST00000602860.5:n.1055A>C
ENST00000602860.6:n.1537A>C
ENST00000602945.5:n.687A>C
ENST00000602945.6:n.759A>C
ENST00000620338.4:c.875A>C	ENSP00000483117.1:p.His292Pro
ENST00000620761.4:c.617A>C	ENSP00000478084.1:p.His206Pro
ENST00000695641.1:n.1534A>C
ENST00000695648.1:c.599A>C	ENSP00000512081.1:p.His200Pro
ENST00000695649.1:n.1610A>C
ENST00000695650.1:c.*379A>C	ENSP00000512082.1:n.*379A>C
ENST00000695656.1:n.1064A>C
ENST00000695657.1:n.1022A>C
ENST00000695658.1:c.617A>C	ENSP00000512088.1:p.His206Pro
ENST00000695659.1:c.617A>C	ENSP00000512089.1:p.His206Pro
ENST00000695660.1:n.1130A>C
ENST00000695661.1:c.*96A>C	ENSP00000512090.1:n.*96A>C
ENST00000695662.1:c.*96A>C	ENSP00000512091.1:n.*96A>C
ENST00000695694.1:c.572A>C	ENSP00000512105.1:p.His191Pro
ENST00000695695.1:n.683A>C
ENST00000695696.1:n.998A>C
ENST00000695697.1:c.617A>C	ENSP00000512106.1:p.His206Pro
ENST00000695698.1:n.867A>C
ENST00000695699.1:n.905A>C
ENST00000695700.1:n.982A>C
ENST00000695701.1:n.1000A>C
ENST00000695702.1:n.732A>C
ENST00000695709.1:n.269A>C
ENST00000695710.1:n.870A>C
ENST00000695711.1:c.617A>C	ENSP00000512109.1:p.His206Pro
ENST00000695712.1:c.*367A>C	ENSP00000512110.1:n.*367A>C
ENST00000695713.1:c.246A>C	ENSP00000512111.1:n.246A>C
ENST00000695731.1:c.124A>C
ENST00000695732.1:c.617A>C	ENSP00000512125.1:p.His206Pro
ENST00000695733.1:c.617A>C	ENSP00000512126.1:p.His206Pro
ENST00000695734.1:c.617A>C	ENSP00000512127.1:p.His206Pro
ENST00000695735.1:n.124A>C
ENST00000695736.1:c.158-140A>C	ENSP00000512129.1:n.158-140A>C
XM_005256115.2:c.875A>C	XP_005256172.1:p.His292Pro
XM_005256115.4:c.875A>C	XP_005256172.1:p.His292Pro
XR_429727.2:n.1212A>C
XR_429727.3:n.1225A>C
XR_429728.2:n.1212A>C
XR_429728.3:n.1229A>C