Canonical Allele Identifier: CA1143679791
Gene: ACTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432340C= , CM000663.2:g.229432340C= GRCh38
NC_000001.10:g.229568087C= , CM000663.1:g.229568087C= GRCh37
NC_000001.9:g.227634710C= NCBI36
NG_006672.1:g.6757G= , LRG_429:g.6757G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.546G= ENSP00000355644.4:p.Leu182=
ENST00000684723.1:c.411G= ENSP00000508084.1:p.Leu137=
ENST00000366683.3:c.479+67G= ENSP00000355644.3:n.479+67G=
ENST00000366684.7:c.546G= MANE Select ENSP00000355645.3:p.Leu182=
NM_001100.3:c.546G= , LRG_429t1:c.546G= NP_001091.1:p.Leu182=
NM_001100.4:c.546G= MANE Select NP_001091.1:p.Leu182=