Canonical Allele Identifier: CA1013145808
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs1553255511
gnomAD v3: 1-229432889-C-T
gnomAD v4: 1-229432889-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432889C>T , CM000663.2:g.229432889C>T GRCh38
NC_000001.10:g.229568636C>T , CM000663.1:g.229568636C>T GRCh37
NC_000001.9:g.227635259C>T NCBI36
NG_006672.1:g.6208G>A , LRG_429:g.6208G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.130-9G>A ENSP00000355644.4:n.130-9G>A
ENST00000684723.1:c.-6-9G>A ENSP00000508084.1:n.-6-9G>A
ENST00000366683.3:c.130-9G>A ENSP00000355644.3:n.130-9G>A
ENST00000366684.7:c.130-9G>A MANE Select ENSP00000355645.3:n.130-9G>A
NM_001100.3:c.130-9G>A , LRG_429t1:c.130-9G>A NP_001091.1:n.130-9G>A
NM_001100.4:c.130-9G>A MANE Select NP_001091.1:n.130-9G>A
Search 100 bp 5'
Search 100 bp 3'