Canonical Allele Identifier: CA345145746
Gene: ACTA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431809A>T , CM000663.2:g.229431809A>T GRCh38
NC_000001.10:g.229567556A>T , CM000663.1:g.229567556A>T GRCh37
NC_000001.9:g.227634179A>T NCBI36
NG_006672.1:g.7288T>A , LRG_429:g.7288T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.902T>A ENSP00000355644.4:p.Met301Lys
ENST00000684723.1:c.767T>A ENSP00000508084.1:p.Met256Lys
ENST00000366683.3:c.533T>A ENSP00000355644.3:p.Met178Lys
ENST00000366684.7:c.902T>A MANE Select ENSP00000355645.3:p.Met301Lys
NM_001100.3:c.902T>A , LRG_429t1:c.902T>A NP_001091.1:p.Met301Lys
NM_001100.4:c.902T>A MANE Select NP_001091.1:p.Met301Lys