Canonical Allele Identifier: CA1148281720
Gene: ACTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431829G= , CM000663.2:g.229431829G= GRCh38
NC_000001.10:g.229567576G= , CM000663.1:g.229567576G= GRCh37
NC_000001.9:g.227634199G= NCBI36
NG_006672.1:g.7268C= , LRG_429:g.7268C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.882C= ENSP00000355644.4:p.Asp294=
ENST00000684723.1:c.747C= ENSP00000508084.1:p.Asp249=
ENST00000366683.3:c.513C= ENSP00000355644.3:p.Asp171=
ENST00000366684.7:c.882C= MANE Select ENSP00000355645.3:p.Asp294=
NM_001100.3:c.882C= , LRG_429t1:c.882C= NP_001091.1:p.Asp294=
NM_001100.4:c.882C= MANE Select NP_001091.1:p.Asp294=