Canonical Allele Identifier: CA8114860
Community Standard Title: NM_001082486.2(ACD):c.-29C>G
Gene: ACD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67660249G>C , CM000678.2:g.67660249G>C GRCh38
NC_000016.9:g.67694152G>C , CM000678.1:g.67694152G>C GRCh37
NC_000016.8:g.66251653G>C NCBI36
NG_042874.1:g.5567C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001082486.2:c.-29C>G MANE Select NP_001075955.2:n.-29C>G
ENST00000620761.6:c.-29C>G MANE Select ENSP00000478084.1:n.-29C>G
NM_001082486.1:c.230C>G NP_001075955.1:p.Pro77Arg
NM_001082487.1:c.230C>G NP_001075956.1:p.Pro77Arg
NM_022914.2:c.230C>G NP_075065.2:p.Pro77Arg
NM_022914.3:c.-29C>G NP_075065.3:n.-29C>G
ENST00000219251.12:c.230C>G ENSP00000219251.7:p.Pro77Arg
ENST00000219251.13:c.-29C>G ENSP00000219251.8:n.-29C>G
ENST00000393919.8:c.230C>G ENSP00000377496.4:p.Pro77Arg
ENST00000602382.6:c.-29C>G ENSP00000473313.2:n.-29C>G
ENST00000602423.1:n.16C>G
ENST00000602622.5:n.23C>G
ENST00000602780.1:n.55C>G
ENST00000602780.2:n.55C>G
ENST00000602821.1:n.23C>G
ENST00000602850.6:c.-29C>G ENSP00000473595.3:n.-29C>G
ENST00000602860.5:n.33C>G
ENST00000602860.6:n.515C>G
ENST00000602945.6:n.38C>G
ENST00000620338.4:c.230C>G ENSP00000483117.1:p.Pro77Arg
ENST00000695641.1:n.512C>G
ENST00000695648.1:c.-29C>G ENSP00000512081.1:n.-29C>G
ENST00000695649.1:n.512C>G
ENST00000695650.1:c.-29C>G ENSP00000512082.1:n.-29C>G
ENST00000695656.1:n.42C>G
ENST00000695658.1:c.-29C>G ENSP00000512088.1:n.-29C>G
ENST00000695659.1:c.-29C>G ENSP00000512089.1:n.-29C>G
ENST00000695660.1:n.32C>G
ENST00000695662.1:c.-29C>G ENSP00000512091.1:n.-29C>G
ENST00000695663.1:n.28C>G
ENST00000695694.1:c.-29C>G ENSP00000512105.1:n.-29C>G
ENST00000695695.1:n.42C>G
ENST00000695697.1:c.-29C>G ENSP00000512106.1:n.-29C>G
ENST00000695711.1:c.-29C>G ENSP00000512109.1:n.-29C>G
ENST00000695732.1:c.-29C>G ENSP00000512125.1:n.-29C>G
ENST00000695733.1:c.-29C>G ENSP00000512126.1:n.-29C>G
ENST00000695734.1:c.-29C>G ENSP00000512127.1:n.-29C>G
XM_005256115.2:c.230C>G XP_005256172.1:p.Pro77Arg
XM_005256115.4:c.230C>G XP_005256172.1:p.Pro77Arg
XR_429727.2:n.567C>G
XR_429727.3:n.580C>G
XR_429728.2:n.567C>G
XR_429728.3:n.584C>G