Canonical Allele Identifier: CA345148417
Gene: ACTA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432357T>A , CM000663.2:g.229432357T>A GRCh38
NC_000001.10:g.229568104T>A , CM000663.1:g.229568104T>A GRCh37
NC_000001.9:g.227634727T>A NCBI36
NG_006672.1:g.6740A>T , LRG_429:g.6740A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.529A>T ENSP00000355644.4:p.Ile177Phe
ENST00000684723.1:c.394A>T ENSP00000508084.1:p.Ile132Phe
ENST00000366683.3:c.479+50A>T ENSP00000355644.3:p.=
ENST00000366684.7:c.529A>T MANE Select ENSP00000355645.3:p.Ile177Phe
NM_001100.3:c.529A>T , LRG_429t1:c.529A>T NP_001091.1:p.Ile177Phe
NM_001100.4:c.529A>T MANE Select NP_001091.1:p.Ile177Phe