Canonical Allele Identifier: CA2650926645

Gene: ACTA1

Linked Data

• gnomAD v4: 1-229432194-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229432194G>C , CM000663.2:g.229432194G>C	GRCh38
NC_000001.10:g.229567941G>C , CM000663.1:g.229567941G>C	GRCh37
NC_000001.9:g.227634564G>C	NCBI36
NG_006672.1:g.6903C>G , LRG_429:g.6903C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000366683.4:c.617-9C>G	ENSP00000355644.4:n.617-9C>G
ENST00000684723.1:c.482-9C>G	ENSP00000508084.1:n.482-9C>G
ENST00000366683.3:c.479+213C>G	ENSP00000355644.3:n.479+213C>G
ENST00000366684.7:c.617-9C>G MANE Select	ENSP00000355645.3:n.617-9C>G
NM_001100.3:c.617-9C>G , LRG_429t1:c.617-9C>G	NP_001091.1:n.617-9C>G
NM_001100.4:c.617-9C>G MANE Select	NP_001091.1:n.617-9C>G