Canonical Allele Identifier: CA38815795
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs893970878
gnomAD v3: 1-229432231-C-T
gnomAD v4: 1-229432231-C-T
MyVariant Identifiers: chr1:g.229567978C>T (hg19) chr1:g.229432231C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432231C>T , CM000663.2:g.229432231C>T GRCh38
NC_000001.10:g.229567978C>T , CM000663.1:g.229567978C>T GRCh37
NC_000001.9:g.227634601C>T NCBI36
NG_006672.1:g.6866G>A , LRG_429:g.6866G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.616+39G>A ENSP00000355644.4:n.616+39G>A
ENST00000684723.1:c.481+39G>A ENSP00000508084.1:n.481+39G>A
ENST00000366683.3:c.479+176G>A ENSP00000355644.3:n.479+176G>A
ENST00000366684.7:c.616+39G>A MANE Select ENSP00000355645.3:n.616+39G>A
NM_001100.3:c.616+39G>A , LRG_429t1:c.616+39G>A NP_001091.1:n.616+39G>A
NM_001100.4:c.616+39G>A MANE Select NP_001091.1:n.616+39G>A
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