Canonical Allele Identifier: CA1926616790

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.88989514C= , CM000672.2:g.88989514C= GRCh38
NC_000010.10:g.90749271C= , CM000672.1:g.90749271C= GRCh37
NC_000010.9:g.90739251C= NCBI36
NG_009089.2:g.3984C= , LRG_134:g.3984C=
NG_011541.1:g.6877G= , LRG_781:g.6877G=

Transcript Alleles

HGVS Amino-acid change
ENST00000415557.2:c.-24+1425G= (ACTA2) ENSP00000396730.2:n.-24+1425G=
ENST00000458159.6:c.-24+1508G= (ACTA2) ENSP00000398239.2:n.-24+1508G=
ENST00000696723.1:n.3598C= (FAS)
ENST00000696992.1:n.1082C= (FAS)
ENST00000688239.1:n.306C= (FAS)
ENST00000690268.1:c.46C= (FAS) ENSP00000509810.1:p.His16=
ENST00000415557.1:c.-24+1425G= (ACTA2) ENSP00000396730.1:n.-24+1425G=
ENST00000458159.5:c.-24+1508G= (ACTA2) ENSP00000398239.1:n.-24+1508G=
ENST00000458208.5:c.-24+1425G= (ACTA2) ENSP00000402373.1:n.-24+1425G=
NM_001141945.1:c.-24+1425G= , LRG_781t2:c.-24+1425G= (ACTA2) NP_001135417.1:n.-24+1425G=
XM_006717819.2:c.46C= (FAS) XP_006717882.1:p.His16=
XM_011539764.1:c.127C= (FAS) XP_011538066.1:p.His43=
XM_011539765.1:c.127C= (FAS) XP_011538067.1:p.His43=
XM_011539766.1:c.46C= (FAS) XP_011538068.1:p.His16=
XM_011540016.1:c.-24+1508G= (ACTA2) XP_011538318.1:n.-24+1508G=
XR_945732.1:n.142C= (FAS)
XR_945733.1:n.142C= (FAS)
NM_001141945.2:c.-24+1425G= (ACTA2) NP_001135417.1:n.-24+1425G=
NM_001320855.1:c.-24+1508G= (ACTA2) NP_001307784.1:n.-24+1508G=
XM_006717819.3:c.46C= (FAS) XP_006717882.1:p.His16=
XM_011539764.2:c.127C= (FAS) XP_011538066.1:p.His43=
XM_011539765.2:c.127C= (FAS) XP_011538067.1:p.His43=
XM_011539766.2:c.46C= (FAS) XP_011538068.1:p.His16=
XR_945732.3:n.142C= (FAS)
XR_945733.2:n.142C= (FAS)