Canonical Allele Identifier: CA345147498
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs148514635
gnomAD v2: 1-229567927-G-A
gnomAD v3: 1-229432180-G-A
gnomAD v4: 1-229432180-G-A
MyVariant Identifiers: chr1:g.229567927G>A (hg19) chr1:g.229432180G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432180G>A , CM000663.2:g.229432180G>A GRCh38
NC_000001.10:g.229567927G>A , CM000663.1:g.229567927G>A GRCh37
NC_000001.9:g.227634550G>A NCBI36
NG_006672.1:g.6917C>T , LRG_429:g.6917C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.622C>T ENSP00000355644.4:p.Arg208Cys
ENST00000684723.1:c.487C>T ENSP00000508084.1:p.Arg163Cys
ENST00000366683.3:c.479+227C>T ENSP00000355644.3:n.479+227C>T
ENST00000366684.7:c.622C>T MANE Select ENSP00000355645.3:p.Arg208Cys
NM_001100.3:c.622C>T , LRG_429t1:c.622C>T NP_001091.1:p.Arg208Cys
NM_001100.4:c.622C>T MANE Select NP_001091.1:p.Arg208Cys
Search 100 bp 5'
Search 100 bp 3'