Canonical Allele Identifier: CA732578995
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs1200046209
gnomAD v4: 1-229431101-G-T
MyVariant Identifiers: chr1:g.229566848G>T (hg19) chr1:g.229431101G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431101G>T , CM000663.2:g.229431101G>T GRCh38
NC_000001.10:g.229566848G>T , CM000663.1:g.229566848G>T GRCh37
NC_000001.9:g.227633471G>T NCBI36
NG_006672.1:g.7996C>A , LRG_429:g.7996C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684723.1:c.*398C>A ENSP00000508084.1:n.*398C>A
Search 100 bp 5'
Search 100 bp 3'