Canonical Allele Identifier: CA345145720
Gene: ACTA1 HGNC NCBI

Linked Data

gnomAD v4: 1-229431806-G-T
MyVariant Identifiers: chr1:g.229567553G>T (hg19) chr1:g.229431806G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431806G>T , CM000663.2:g.229431806G>T GRCh38
NC_000001.10:g.229567553G>T , CM000663.1:g.229567553G>T GRCh37
NC_000001.9:g.227634176G>T NCBI36
NG_006672.1:g.7291C>A , LRG_429:g.7291C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.905C>A ENSP00000355644.4:p.Ser302Ter
ENST00000684723.1:c.770C>A ENSP00000508084.1:p.Ser257Ter
ENST00000366683.3:c.536C>A ENSP00000355644.3:p.Ser179Ter
ENST00000366684.7:c.905C>A MANE Select ENSP00000355645.3:p.Ser302Ter
NM_001100.3:c.905C>A , LRG_429t1:c.905C>A NP_001091.1:p.Ser302Ter
NM_001100.4:c.905C>A MANE Select NP_001091.1:p.Ser302Ter
Search 100 bp 5'
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