Canonical Allele Identifier: CA345149299
Gene: ACTA1 HGNC NCBI

Linked Data

gnomAD v4: 1-229432601-C-T
MyVariant Identifiers: chr1:g.229568348C>T (hg19) chr1:g.229432601C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432601C>T , CM000663.2:g.229432601C>T GRCh38
NC_000001.10:g.229568348C>T , CM000663.1:g.229568348C>T GRCh37
NC_000001.9:g.227634971C>T NCBI36
NG_006672.1:g.6496G>A , LRG_429:g.6496G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.409G>A ENSP00000355644.4:p.Ala137Thr
ENST00000684723.1:c.274G>A ENSP00000508084.1:p.Ala92Thr
ENST00000366683.3:c.409G>A ENSP00000355644.3:p.Ala137Thr
ENST00000366684.7:c.409G>A MANE Select ENSP00000355645.3:p.Ala137Thr
NM_001100.3:c.409G>A , LRG_429t1:c.409G>A NP_001091.1:p.Ala137Thr
NM_001100.4:c.409G>A MANE Select NP_001091.1:p.Ala137Thr
Search 100 bp 5'
Search 100 bp 3'