Canonical Allele Identifier: CA345146320

Gene: ACTA1

Linked Data

• gnomAD v4: 1-229431904-T-C
• MyVariant Identifiers: chr1:g.229567651T>C (hg19) ; chr1:g.229431904T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431904T>C , CM000663.2:g.229431904T>C	GRCh38
NC_000001.10:g.229567651T>C , CM000663.1:g.229567651T>C	GRCh37
NC_000001.9:g.227634274T>C	NCBI36
NG_006672.1:g.7193A>G , LRG_429:g.7193A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000366683.4:c.809-2A>G	ENSP00000355644.4:n.809-2A>G
ENST00000684723.1:c.674-2A>G	ENSP00000508084.1:n.674-2A>G
ENST00000366683.3:c.480-42A>G	ENSP00000355644.3:n.480-42A>G
ENST00000366684.7:c.809-2A>G MANE Select	ENSP00000355645.3:n.809-2A>G
NM_001100.3:c.809-2A>G , LRG_429t1:c.809-2A>G	NP_001091.1:n.809-2A>G
NM_001100.4:c.809-2A>G MANE Select	NP_001091.1:n.809-2A>G