Canonical Allele Identifier: CA1145775424
Gene: ACTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431820G= , CM000663.2:g.229431820G= GRCh38
NC_000001.10:g.229567567G= , CM000663.1:g.229567567G= GRCh37
NC_000001.9:g.227634190G= NCBI36
NG_006672.1:g.7277C= , LRG_429:g.7277C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.891C= ENSP00000355644.4:p.Ala297=
ENST00000684723.1:c.756C= ENSP00000508084.1:p.Ala252=
ENST00000366683.3:c.522C= ENSP00000355644.3:p.Ala174=
ENST00000366684.7:c.891C= MANE Select ENSP00000355645.3:p.Ala297=
NM_001100.3:c.891C= , LRG_429t1:c.891C= NP_001091.1:p.Ala297=
NM_001100.4:c.891C= MANE Select NP_001091.1:p.Ala297=