Canonical Allele Identifier: CA2650926451
Gene: ACTA1 HGNC NCBI

Linked Data

gnomAD v4: 1-229431265-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431265G>T , CM000663.2:g.229431265G>T GRCh38
NC_000001.10:g.229567012G>T , CM000663.1:g.229567012G>T GRCh37
NC_000001.9:g.227633635G>T NCBI36
NG_006672.1:g.7832C>A , LRG_429:g.7832C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.*234C>A ENSP00000355644.4:n.*234C>A
ENST00000684723.1:c.*234C>A ENSP00000508084.1:n.*234C>A
ENST00000366683.3:c.*234C>A ENSP00000355644.3:n.*234C>A
ENST00000366684.7:c.*234C>A MANE Select ENSP00000355645.3:n.*234C>A
NM_001100.3:c.*234C>A , LRG_429t1:c.*234C>A NP_001091.1:n.*234C>A
NM_001100.4:c.*234C>A MANE Select NP_001091.1:n.*234C>A
Search 100 bp 5'
Search 100 bp 3'