Canonical Allele Identifier: CA2698259914
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs2102735443

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431937dup , CM000663.2:g.229431937dup GRCh38
NC_000001.10:g.229567684dup , CM000663.1:g.229567684dup GRCh37
NC_000001.9:g.227634307dup NCBI36
NG_006672.1:g.7160dup , LRG_429:g.7160dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.809-35dup ENSP00000355644.4:n.809-35dup
ENST00000684723.1:c.674-35dup ENSP00000508084.1:n.674-35dup
ENST00000366683.3:c.480-75dup ENSP00000355644.3:n.480-75dup
ENST00000366684.7:c.809-35dup MANE Select ENSP00000355645.3:n.809-35dup
NM_001100.3:c.809-35dup , LRG_429t1:c.809-35dup NP_001091.1:n.809-35dup
NM_001100.4:c.809-35dup MANE Select NP_001091.1:n.809-35dup