Canonical Allele Identifier: CA345148282
Gene: ACTA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.229568080G>C (hg19) chr1:g.229432333G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432333G>C , CM000663.2:g.229432333G>C GRCh38
NC_000001.10:g.229568080G>C , CM000663.1:g.229568080G>C GRCh37
NC_000001.9:g.227634703G>C NCBI36
NG_006672.1:g.6764C>G , LRG_429:g.6764C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.553C>G ENSP00000355644.4:p.Arg185Gly
ENST00000684723.1:c.418C>G ENSP00000508084.1:p.Arg140Gly
ENST00000366683.3:c.479+74C>G ENSP00000355644.3:n.479+74C>G
ENST00000366684.7:c.553C>G MANE Select ENSP00000355645.3:p.Arg185Gly
NM_001100.3:c.553C>G , LRG_429t1:c.553C>G NP_001091.1:p.Arg185Gly
NM_001100.4:c.553C>G MANE Select NP_001091.1:p.Arg185Gly
Search 100 bp 5'
Search 100 bp 3'