Canonical Allele Identifier: CA1226125648
Gene: ACTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432101G= , CM000663.2:g.229432101G= GRCh38
NC_000001.10:g.229567848G= , CM000663.1:g.229567848G= GRCh37
NC_000001.9:g.227634471G= NCBI36
NG_006672.1:g.6996C= , LRG_429:g.6996C=

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.701C= ENSP00000355644.4:p.Ser234=
ENST00000684723.1:c.566C= ENSP00000508084.1:p.Ser189=
ENST00000366683.3:c.480-239C= ENSP00000355644.3:n.480-239C=
ENST00000366684.7:c.701C= MANE Select ENSP00000355645.3:p.Ser234=
NM_001100.3:c.701C= , LRG_429t1:c.701C= NP_001091.1:p.Ser234=
NM_001100.4:c.701C= MANE Select NP_001091.1:p.Ser234=