Canonical Allele Identifier: CA529915267
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs1280869220
gnomAD v2: 1-229567950-A-C
gnomAD v4: 1-229432203-A-C
MyVariant Identifiers: chr1:g.229567950A>C (hg19) chr1:g.229432203A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432203A>C , CM000663.2:g.229432203A>C GRCh38
NC_000001.10:g.229567950A>C , CM000663.1:g.229567950A>C GRCh37
NC_000001.9:g.227634573A>C NCBI36
NG_006672.1:g.6894T>G , LRG_429:g.6894T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.617-18T>G ENSP00000355644.4:n.617-18T>G
ENST00000684723.1:c.482-18T>G ENSP00000508084.1:n.482-18T>G
ENST00000366683.3:c.479+204T>G ENSP00000355644.3:n.479+204T>G
ENST00000366684.7:c.617-18T>G MANE Select ENSP00000355645.3:n.617-18T>G
NM_001100.3:c.617-18T>G , LRG_429t1:c.617-18T>G NP_001091.1:n.617-18T>G
NM_001100.4:c.617-18T>G MANE Select NP_001091.1:n.617-18T>G
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