Canonical Allele Identifier: CA1926620984

Linked Data

dbSNP Id: rs1926203

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.88967577C>T , CM000672.2:g.88967577C>T GRCh38
NC_000010.10:g.90727334C>T , CM000672.1:g.90727334C>T GRCh37
NC_000010.9:g.90717314C>T NCBI36
NG_011541.1:g.28814G>A , LRG_781:g.28814G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000415557.2:c.-23-18624G>A (ACTA2) ENSP00000396730.2:n.-23-18624G>A
ENST00000458159.6:c.-23-18624G>A (ACTA2) ENSP00000398239.2:n.-23-18624G>A
ENST00000688239.1:n.95-5605C>T (FAS)
ENST00000371927.7:c.1255-5605C>T (STAMBPL1) ENSP00000360995.3:n.1255-5605C>T
ENST00000415557.1:c.-23-18624G>A (ACTA2) ENSP00000396730.1:n.-23-18624G>A
ENST00000458159.5:c.-23-18624G>A (ACTA2) ENSP00000398239.1:n.-23-18624G>A
ENST00000458208.5:c.-23-18624G>A (ACTA2) ENSP00000402373.1:n.-23-18624G>A
NM_001141945.1:c.-23-18624G>A , LRG_781t2:c.-23-18624G>A (ACTA2) NP_001135417.1:n.-23-18624G>A
XM_011540016.1:c.-23-18624G>A (ACTA2) XP_011538318.1:n.-23-18624G>A
NM_001141945.2:c.-23-18624G>A (ACTA2) NP_001135417.1:n.-23-18624G>A
NM_001320855.1:c.-23-18624G>A (ACTA2) NP_001307784.1:n.-23-18624G>A