Canonical Allele Identifier: CA345150648
Gene: ACTA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432800C>A , CM000663.2:g.229432800C>A GRCh38
NC_000001.10:g.229568547C>A , CM000663.1:g.229568547C>A GRCh37
NC_000001.9:g.227635170C>A NCBI36
NG_006672.1:g.6297G>T , LRG_429:g.6297G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.210G>T ENSP00000355644.4:p.Lys70Asn
ENST00000684723.1:c.75G>T ENSP00000508084.1:p.Lys25Asn
ENST00000366683.3:c.210G>T ENSP00000355644.3:p.Lys70Asn
ENST00000366684.7:c.210G>T MANE Select ENSP00000355645.3:p.Lys70Asn
NM_001100.3:c.210G>T , LRG_429t1:c.210G>T NP_001091.1:p.Lys70Asn
NM_001100.4:c.210G>T MANE Select NP_001091.1:p.Lys70Asn