Canonical Allele Identifier: CA2841097846

Gene: ACTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229432543A>G , CM000663.2:g.229432543A>G	GRCh38
NC_000001.10:g.229568290A>G , CM000663.1:g.229568290A>G	GRCh37
NC_000001.9:g.227634913A>G	NCBI36
NG_006672.1:g.6554T>C , LRG_429:g.6554T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.454+13T>C	ENSP00000355644.4:n.454+13T>C
ENST00000684723.1:c.319+13T>C	ENSP00000508084.1:n.319+13T>C
ENST00000366683.3:c.454+13T>C	ENSP00000355644.3:n.454+13T>C
ENST00000366684.7:c.454+13T>C MANE Select	ENSP00000355645.3:n.454+13T>C
NM_001100.3:c.454+13T>C , LRG_429t1:c.454+13T>C	NP_001091.1:n.454+13T>C
NM_001100.4:c.454+13T>C MANE Select	NP_001091.1:n.454+13T>C