Canonical Allele Identifier: CA1226125821
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs1659968644
gnomAD v4: 1-229432496-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432496C>G , CM000663.2:g.229432496C>G GRCh38
NC_000001.10:g.229568243C>G , CM000663.1:g.229568243C>G GRCh37
NC_000001.9:g.227634866C>G NCBI36
NG_006672.1:g.6601G>C , LRG_429:g.6601G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.454+60G>C ENSP00000355644.4:n.454+60G>C
ENST00000684723.1:c.319+60G>C ENSP00000508084.1:n.319+60G>C
ENST00000366683.3:c.454+60G>C ENSP00000355644.3:n.454+60G>C
ENST00000366684.7:c.454+60G>C MANE Select ENSP00000355645.3:n.454+60G>C
NM_001100.3:c.454+60G>C , LRG_429t1:c.454+60G>C NP_001091.1:n.454+60G>C
NM_001100.4:c.454+60G>C MANE Select NP_001091.1:n.454+60G>C
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