Canonical Allele Identifier: CA423755193
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs1418024508
gnomAD v3: 1-229432677-G-A
gnomAD v4: 1-229432677-G-A
MyVariant Identifiers: chr1:g.229568424G>A (hg19) chr1:g.229432677G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432677G>A , CM000663.2:g.229432677G>A GRCh38
NC_000001.10:g.229568424G>A , CM000663.1:g.229568424G>A GRCh37
NC_000001.9:g.227635047G>A NCBI36
NG_006672.1:g.6420C>T , LRG_429:g.6420C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.333C>T ENSP00000355644.4:p.Pro111=
ENST00000684723.1:c.198C>T ENSP00000508084.1:p.Pro66=
ENST00000366683.3:c.333C>T ENSP00000355644.3:p.Pro111=
ENST00000366684.7:c.333C>T MANE Select ENSP00000355645.3:p.Pro111=
NM_001100.3:c.333C>T , LRG_429t1:c.333C>T NP_001091.1:p.Pro111=
NM_001100.4:c.333C>T MANE Select NP_001091.1:p.Pro111=
Search 100 bp 5'
Search 100 bp 3'