Canonical Allele Identifier: CA529915285
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs1353323859
gnomAD v2: 1-229567452-G-T
gnomAD v3: 1-229431705-G-T
gnomAD v4: 1-229431705-G-T
MyVariant Identifiers: chr1:g.229567452G>T (hg19) chr1:g.229431705G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431705G>T , CM000663.2:g.229431705G>T GRCh38
NC_000001.10:g.229567452G>T , CM000663.1:g.229567452G>T GRCh37
NC_000001.9:g.227634075G>T NCBI36
NG_006672.1:g.7392C>A , LRG_429:g.7392C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.990+16C>A ENSP00000355644.4:n.990+16C>A
ENST00000684723.1:c.855+16C>A ENSP00000508084.1:n.855+16C>A
ENST00000366683.3:c.621+16C>A ENSP00000355644.3:n.621+16C>A
ENST00000366684.7:c.990+16C>A MANE Select ENSP00000355645.3:n.990+16C>A
NM_001100.3:c.990+16C>A , LRG_429t1:c.990+16C>A NP_001091.1:n.990+16C>A
NM_001100.4:c.990+16C>A MANE Select NP_001091.1:n.990+16C>A
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