Canonical Allele Identifier: CA2650926650
Gene: ACTA1 HGNC NCBI

Linked Data

gnomAD v4: 1-229432202-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432202C>G , CM000663.2:g.229432202C>G GRCh38
NC_000001.10:g.229567949C>G , CM000663.1:g.229567949C>G GRCh37
NC_000001.9:g.227634572C>G NCBI36
NG_006672.1:g.6895G>C , LRG_429:g.6895G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.617-17G>C ENSP00000355644.4:n.617-17G>C
ENST00000684723.1:c.482-17G>C ENSP00000508084.1:n.482-17G>C
ENST00000366683.3:c.479+205G>C ENSP00000355644.3:n.479+205G>C
ENST00000366684.7:c.617-17G>C MANE Select ENSP00000355645.3:n.617-17G>C
NM_001100.3:c.617-17G>C , LRG_429t1:c.617-17G>C NP_001091.1:n.617-17G>C
NM_001100.4:c.617-17G>C MANE Select NP_001091.1:n.617-17G>C
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