Canonical Allele Identifier: CA345145034
Gene: ACTA1 HGNC NCBI

Linked Data

gnomAD v4: 1-229431641-A-T
MyVariant Identifiers: chr1:g.229567388A>T (hg19) chr1:g.229431641A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431641A>T , CM000663.2:g.229431641A>T GRCh38
NC_000001.10:g.229567388A>T , CM000663.1:g.229567388A>T GRCh37
NC_000001.9:g.227634011A>T NCBI36
NG_006672.1:g.7456T>A , LRG_429:g.7456T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.991-77T>A ENSP00000355644.4:n.991-77T>A
ENST00000684723.1:c.857T>A ENSP00000508084.1:p.Ile286Asn
ENST00000366683.3:c.623T>A ENSP00000355644.3:p.Ile208Asn
ENST00000366684.7:c.992T>A MANE Select ENSP00000355645.3:p.Ile331Asn
NM_001100.3:c.992T>A , LRG_429t1:c.992T>A NP_001091.1:p.Ile331Asn
NM_001100.4:c.992T>A MANE Select NP_001091.1:p.Ile331Asn
Search 100 bp 5'
Search 100 bp 3'