Canonical Allele Identifier: CA345147882
Gene: ACTA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.229568037C>G (hg19) chr1:g.229432290C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432290C>G , CM000663.2:g.229432290C>G GRCh38
NC_000001.10:g.229568037C>G , CM000663.1:g.229568037C>G GRCh37
NC_000001.9:g.227634660C>G NCBI36
NG_006672.1:g.6807G>C , LRG_429:g.6807G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.596G>C ENSP00000355644.4:p.Gly199Ala
ENST00000684723.1:c.461G>C ENSP00000508084.1:p.Gly154Ala
ENST00000366683.3:c.479+117G>C ENSP00000355644.3:n.479+117G>C
ENST00000366684.7:c.596G>C MANE Select ENSP00000355645.3:p.Gly199Ala
NM_001100.3:c.596G>C , LRG_429t1:c.596G>C NP_001091.1:p.Gly199Ala
NM_001100.4:c.596G>C MANE Select NP_001091.1:p.Gly199Ala
Search 100 bp 5'
Search 100 bp 3'