Canonical Allele Identifier: CA1147454841
Gene: ACTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432112C= , CM000663.2:g.229432112C= GRCh38
NC_000001.10:g.229567859C= , CM000663.1:g.229567859C= GRCh37
NC_000001.9:g.227634482C= NCBI36
NG_006672.1:g.6985G= , LRG_429:g.6985G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.690G= ENSP00000355644.4:p.Ala230=
ENST00000684723.1:c.555G= ENSP00000508084.1:p.Ala185=
ENST00000366683.3:c.480-250G= ENSP00000355644.3:n.480-250G=
ENST00000366684.7:c.690G= MANE Select ENSP00000355645.3:p.Ala230=
NM_001100.3:c.690G= , LRG_429t1:c.690G= NP_001091.1:p.Ala230=
NM_001100.4:c.690G= MANE Select NP_001091.1:p.Ala230=