Canonical Allele Identifier: CA345145700
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs1206441541
gnomAD v2: 1-229567550-C-A
gnomAD v3: 1-229431803-C-A
gnomAD v4: 1-229431803-C-A
MyVariant Identifiers: chr1:g.229567550C>A (hg19) chr1:g.229431803C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431803C>A , CM000663.2:g.229431803C>A GRCh38
NC_000001.10:g.229567550C>A , CM000663.1:g.229567550C>A GRCh37
NC_000001.9:g.227634173C>A NCBI36
NG_006672.1:g.7294G>T , LRG_429:g.7294G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.908G>T ENSP00000355644.4:p.Gly303Val
ENST00000684723.1:c.773G>T ENSP00000508084.1:p.Gly258Val
ENST00000366683.3:c.539G>T ENSP00000355644.3:p.Gly180Val
ENST00000366684.7:c.908G>T MANE Select ENSP00000355645.3:p.Gly303Val
NM_001100.3:c.908G>T , LRG_429t1:c.908G>T NP_001091.1:p.Gly303Val
NM_001100.4:c.908G>T MANE Select NP_001091.1:p.Gly303Val
Search 100 bp 5'
Search 100 bp 3'