Canonical Allele Identifier: CA2650926542

Gene: ACTA1

Linked Data

• gnomAD v4: 1-229431394-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431394G>A , CM000663.2:g.229431394G>A	GRCh38
NC_000001.10:g.229567141G>A , CM000663.1:g.229567141G>A	GRCh37
NC_000001.9:g.227633764G>A	NCBI36
NG_006672.1:g.7703C>T , LRG_429:g.7703C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.*105C>T	ENSP00000355644.4:n.*105C>T
ENST00000684723.1:c.*105C>T	ENSP00000508084.1:n.*105C>T
ENST00000366683.3:c.*105C>T	ENSP00000355644.3:n.*105C>T
ENST00000366684.7:c.*105C>T MANE Select	ENSP00000355645.3:n.*105C>T
NM_001100.3:c.*105C>T , LRG_429t1:c.*105C>T	NP_001091.1:n.*105C>T
NM_001100.4:c.*105C>T MANE Select	NP_001091.1:n.*105C>T