Canonical Allele Identifier: CA732580501
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs778314735
gnomAD v4: 1-229432217-C-T
MyVariant Identifiers: chr1:g.229567964C>T (hg19) chr1:g.229432217C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432217C>T , CM000663.2:g.229432217C>T GRCh38
NC_000001.10:g.229567964C>T , CM000663.1:g.229567964C>T GRCh37
NC_000001.9:g.227634587C>T NCBI36
NG_006672.1:g.6880G>A , LRG_429:g.6880G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.617-32G>A ENSP00000355644.4:n.617-32G>A
ENST00000684723.1:c.482-32G>A ENSP00000508084.1:n.482-32G>A
ENST00000366683.3:c.479+190G>A ENSP00000355644.3:n.479+190G>A
ENST00000366684.7:c.617-32G>A MANE Select ENSP00000355645.3:n.617-32G>A
NM_001100.3:c.617-32G>A , LRG_429t1:c.617-32G>A NP_001091.1:n.617-32G>A
NM_001100.4:c.617-32G>A MANE Select NP_001091.1:n.617-32G>A
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