Canonical Allele Identifier: CA2650926647
Gene: ACTA1 HGNC NCBI

Linked Data

gnomAD v4: 1-229432195-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432195G>T , CM000663.2:g.229432195G>T GRCh38
NC_000001.10:g.229567942G>T , CM000663.1:g.229567942G>T GRCh37
NC_000001.9:g.227634565G>T NCBI36
NG_006672.1:g.6902C>A , LRG_429:g.6902C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.617-10C>A ENSP00000355644.4:n.617-10C>A
ENST00000684723.1:c.482-10C>A ENSP00000508084.1:n.482-10C>A
ENST00000366683.3:c.479+212C>A ENSP00000355644.3:n.479+212C>A
ENST00000366684.7:c.617-10C>A MANE Select ENSP00000355645.3:n.617-10C>A
NM_001100.3:c.617-10C>A , LRG_429t1:c.617-10C>A NP_001091.1:n.617-10C>A
NM_001100.4:c.617-10C>A MANE Select NP_001091.1:n.617-10C>A
Search 100 bp 5'
Search 100 bp 3'