Canonical Allele Identifier: CA2748068653

Gene: ACTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431983G>C , CM000663.2:g.229431983G>C	GRCh38
NC_000001.10:g.229567730G>C , CM000663.1:g.229567730G>C	GRCh37
NC_000001.9:g.227634353G>C	NCBI36
NG_006672.1:g.7114C>G , LRG_429:g.7114C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000366683.4:c.808+11C>G	ENSP00000355644.4:n.808+11C>G
ENST00000684723.1:c.673+11C>G	ENSP00000508084.1:n.673+11C>G
ENST00000366683.3:c.480-121C>G	ENSP00000355644.3:n.480-121C>G
ENST00000366684.7:c.808+11C>G MANE Select	ENSP00000355645.3:n.808+11C>G
NM_001100.3:c.808+11C>G , LRG_429t1:c.808+11C>G	NP_001091.1:n.808+11C>G
NM_001100.4:c.808+11C>G MANE Select	NP_001091.1:n.808+11C>G