Canonical Allele Identifier: CA1226125497
Gene: ACTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431803C= , CM000663.2:g.229431803C= GRCh38
NC_000001.10:g.229567550C= , CM000663.1:g.229567550C= GRCh37
NC_000001.9:g.227634173C= NCBI36
NG_006672.1:g.7294G= , LRG_429:g.7294G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.908G= ENSP00000355644.4:p.Gly303=
ENST00000684723.1:c.773G= ENSP00000508084.1:p.Gly258=
ENST00000366683.3:c.539G= ENSP00000355644.3:p.Gly180=
ENST00000366684.7:c.908G= MANE Select ENSP00000355645.3:p.Gly303=
NM_001100.3:c.908G= , LRG_429t1:c.908G= NP_001091.1:p.Gly303=
NM_001100.4:c.908G= MANE Select NP_001091.1:p.Gly303=