Canonical Allele Identifier: CA423755222
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs1289671104
gnomAD v2: 1-229568445-G-T
gnomAD v4: 1-229432698-G-T
MyVariant Identifiers: chr1:g.229568445G>T (hg19) chr1:g.229432698G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432698G>T , CM000663.2:g.229432698G>T GRCh38
NC_000001.10:g.229568445G>T , CM000663.1:g.229568445G>T GRCh37
NC_000001.9:g.227635068G>T NCBI36
NG_006672.1:g.6399C>A , LRG_429:g.6399C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.312C>A ENSP00000355644.4:p.Pro104=
ENST00000684723.1:c.177C>A ENSP00000508084.1:p.Pro59=
ENST00000366683.3:c.312C>A ENSP00000355644.3:p.Pro104=
ENST00000366684.7:c.312C>A MANE Select ENSP00000355645.3:p.Pro104=
NM_001100.3:c.312C>A , LRG_429t1:c.312C>A NP_001091.1:p.Pro104=
NM_001100.4:c.312C>A MANE Select NP_001091.1:p.Pro104=
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