Canonical Allele Identifier: CA345146053
Gene: ACTA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.229567607A>G (hg19) chr1:g.229431860A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431860A>G , CM000663.2:g.229431860A>G GRCh38
NC_000001.10:g.229567607A>G , CM000663.1:g.229567607A>G GRCh37
NC_000001.9:g.227634230A>G NCBI36
NG_006672.1:g.7237T>C , LRG_429:g.7237T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.851T>C ENSP00000355644.4:p.Ile284Thr
ENST00000684723.1:c.716T>C ENSP00000508084.1:p.Ile239Thr
ENST00000366683.3:c.482T>C ENSP00000355644.3:p.Ile161Thr
ENST00000366684.7:c.851T>C MANE Select ENSP00000355645.3:p.Ile284Thr
NM_001100.3:c.851T>C , LRG_429t1:c.851T>C NP_001091.1:p.Ile284Thr
NM_001100.4:c.851T>C MANE Select NP_001091.1:p.Ile284Thr
Search 100 bp 5'
Search 100 bp 3'