Canonical Allele Identifier: CA396356906
Community Standard Title: NM_001082486.2(ACD):c.140A>G (p.His47Arg)
Gene: ACD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67660005T>C , CM000678.2:g.67660005T>C GRCh38
NC_000016.9:g.67693908T>C , CM000678.1:g.67693908T>C GRCh37
NC_000016.8:g.66251409T>C NCBI36
NG_042874.1:g.5811A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001082486.2:c.140A>G MANE Select NP_001075955.2:p.His47Arg
ENST00000620761.6:c.140A>G MANE Select ENSP00000478084.1:p.His47Arg
NM_001082486.1:c.398A>G NP_001075955.1:p.His133Arg
NM_001082487.1:c.389A>G NP_001075956.1:p.His130Arg
NM_022914.2:c.389A>G NP_075065.2:p.His130Arg
NM_022914.3:c.131A>G NP_075065.3:p.His44Arg
ENST00000219251.12:c.389A>G ENSP00000219251.7:p.His130Arg
ENST00000219251.13:c.131A>G ENSP00000219251.8:p.His44Arg
ENST00000393919.8:c.398A>G ENSP00000377496.4:p.His133Arg
ENST00000602320.1:c.131A>G ENSP00000473679.2:p.His44Arg
ENST00000602382.6:c.140A>G ENSP00000473313.2:p.His47Arg
ENST00000602423.1:n.143+117A>G
ENST00000602519.1:n.152A>G
ENST00000602519.2:n.165A>G
ENST00000602622.5:n.267A>G
ENST00000602780.1:n.299A>G
ENST00000602780.2:n.299A>G
ENST00000602821.1:n.267A>G
ENST00000602850.6:c.140A>G ENSP00000473595.3:p.His47Arg
ENST00000602860.5:n.201A>G
ENST00000602860.6:n.683A>G
ENST00000602945.5:n.210A>G
ENST00000602945.6:n.282A>G
ENST00000620338.4:c.398A>G ENSP00000483117.1:p.His133Arg
ENST00000620761.4:c.140A>G ENSP00000478084.1:p.His47Arg
ENST00000695641.1:n.680A>G
ENST00000695648.1:c.140A>G ENSP00000512081.1:p.His47Arg
ENST00000695649.1:n.756A>G
ENST00000695650.1:c.140A>G ENSP00000512082.1:p.His47Arg
ENST00000695656.1:n.210A>G
ENST00000695657.1:n.168A>G
ENST00000695658.1:c.140A>G ENSP00000512088.1:p.His47Arg
ENST00000695659.1:c.140A>G ENSP00000512089.1:p.His47Arg
ENST00000695660.1:n.276A>G
ENST00000695661.1:c.131A>G ENSP00000512090.1:p.His44Arg
ENST00000695662.1:c.140A>G ENSP00000512091.1:p.His47Arg
ENST00000695663.1:n.272A>G
ENST00000695694.1:c.140A>G ENSP00000512105.1:p.His47Arg
ENST00000695695.1:n.286A>G
ENST00000695696.1:n.144A>G
ENST00000695697.1:c.140A>G ENSP00000512106.1:p.His47Arg
ENST00000695698.1:n.162A>G
ENST00000695699.1:n.168A>G
ENST00000695700.1:n.128A>G
ENST00000695701.1:n.146A>G
ENST00000695710.1:n.16A>G
ENST00000695711.1:c.140A>G ENSP00000512109.1:p.His47Arg
ENST00000695712.1:c.140A>G ENSP00000512110.1:p.His47Arg
ENST00000695732.1:c.140A>G ENSP00000512125.1:p.His47Arg
ENST00000695733.1:c.140A>G ENSP00000512126.1:p.His47Arg
ENST00000695734.1:c.140A>G ENSP00000512127.1:p.His47Arg
XM_005256115.2:c.398A>G XP_005256172.1:p.His133Arg
XM_005256115.4:c.398A>G XP_005256172.1:p.His133Arg
XR_429727.2:n.735A>G
XR_429727.3:n.748A>G
XR_429728.2:n.735A>G
XR_429728.3:n.752A>G