Canonical Allele Identifier: CA345148322
Gene: ACTA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.229568091T>G (hg19) chr1:g.229432344T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432344T>G , CM000663.2:g.229432344T>G GRCh38
NC_000001.10:g.229568091T>G , CM000663.1:g.229568091T>G GRCh37
NC_000001.9:g.227634714T>G NCBI36
NG_006672.1:g.6753A>C , LRG_429:g.6753A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.542A>C ENSP00000355644.4:p.Asp181Ala
ENST00000684723.1:c.407A>C ENSP00000508084.1:p.Asp136Ala
ENST00000366683.3:c.479+63A>C ENSP00000355644.3:n.479+63A>C
ENST00000366684.7:c.542A>C MANE Select ENSP00000355645.3:p.Asp181Ala
NM_001100.3:c.542A>C , LRG_429t1:c.542A>C NP_001091.1:p.Asp181Ala
NM_001100.4:c.542A>C MANE Select NP_001091.1:p.Asp181Ala
Search 100 bp 5'
Search 100 bp 3'