Canonical Allele Identifier: CA423755309
Gene: ACTA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.229568024C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432277C>G , CM000663.2:g.229432277C>G GRCh38
NC_000001.10:g.229568024C>G , CM000663.1:g.229568024C>G GRCh37
NC_000001.9:g.227634647C>G NCBI36
NG_006672.1:g.6820G>C , LRG_429:g.6820G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.609G>C ENSP00000355644.4:p.Val203=
ENST00000684723.1:c.474G>C ENSP00000508084.1:p.Val158=
ENST00000366683.3:c.479+130G>C ENSP00000355644.3:n.479+130G>C
ENST00000366684.7:c.609G>C MANE Select ENSP00000355645.3:p.Val203=
NM_001100.3:c.609G>C , LRG_429t1:c.609G>C NP_001091.1:p.Val203=
NM_001100.4:c.609G>C MANE Select NP_001091.1:p.Val203=