Canonical Allele Identifier: CA2650926642
Gene: ACTA1 HGNC NCBI

Linked Data

gnomAD v4: 1-229432188-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432188G>T , CM000663.2:g.229432188G>T GRCh38
NC_000001.10:g.229567935G>T , CM000663.1:g.229567935G>T GRCh37
NC_000001.9:g.227634558G>T NCBI36
NG_006672.1:g.6909C>A , LRG_429:g.6909C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.617-3C>A ENSP00000355644.4:n.617-3C>A
ENST00000684723.1:c.482-3C>A ENSP00000508084.1:n.482-3C>A
ENST00000366683.3:c.479+219C>A ENSP00000355644.3:n.479+219C>A
ENST00000366684.7:c.617-3C>A MANE Select ENSP00000355645.3:n.617-3C>A
NM_001100.3:c.617-3C>A , LRG_429t1:c.617-3C>A NP_001091.1:n.617-3C>A
NM_001100.4:c.617-3C>A MANE Select NP_001091.1:n.617-3C>A
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