Canonical Allele Identifier: CA38815808
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs544387567
gnomAD v3: 1-229432249-G-C
gnomAD v4: 1-229432249-G-C
MyVariant Identifiers: chr1:g.229567996G>C (hg19) chr1:g.229432249G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432249G>C , CM000663.2:g.229432249G>C GRCh38
NC_000001.10:g.229567996G>C , CM000663.1:g.229567996G>C GRCh37
NC_000001.9:g.227634619G>C NCBI36
NG_006672.1:g.6848C>G , LRG_429:g.6848C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.616+21C>G ENSP00000355644.4:n.616+21C>G
ENST00000684723.1:c.481+21C>G ENSP00000508084.1:n.481+21C>G
ENST00000366683.3:c.479+158C>G ENSP00000355644.3:n.479+158C>G
ENST00000366684.7:c.616+21C>G MANE Select ENSP00000355645.3:n.616+21C>G
NM_001100.3:c.616+21C>G , LRG_429t1:c.616+21C>G NP_001091.1:n.616+21C>G
NM_001100.4:c.616+21C>G MANE Select NP_001091.1:n.616+21C>G
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