Canonical Allele Identifier: CA2650926844

Gene: ACTA1

Linked Data

• gnomAD v4: 1-229432958-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229432958C>T , CM000663.2:g.229432958C>T	GRCh38
NC_000001.10:g.229568705C>T , CM000663.1:g.229568705C>T	GRCh37
NC_000001.9:g.227635328C>T	NCBI36
NG_006672.1:g.6139G>A , LRG_429:g.6139G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.129+29G>A	ENSP00000355644.4:n.129+29G>A
ENST00000684723.1:c.-6-78G>A	ENSP00000508084.1:n.-6-78G>A
ENST00000366683.3:c.129+29G>A	ENSP00000355644.3:n.129+29G>A
ENST00000366684.7:c.129+29G>A MANE Select	ENSP00000355645.3:n.129+29G>A
NM_001100.3:c.129+29G>A , LRG_429t1:c.129+29G>A	NP_001091.1:n.129+29G>A
NM_001100.4:c.129+29G>A MANE Select	NP_001091.1:n.129+29G>A