Canonical Allele Identifier: CA1226125365
Gene: ACTA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431520G= , CM000663.2:g.229431520G= GRCh38
NC_000001.10:g.229567267G= , CM000663.1:g.229567267G= GRCh37
NC_000001.9:g.227633890G= NCBI36
NG_006672.1:g.7577C= , LRG_429:g.7577C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.1035C= ENSP00000355644.4:p.Ile345=
ENST00000684723.1:c.978C= ENSP00000508084.1:p.Ile326=
ENST00000366683.3:c.744C= ENSP00000355644.3:p.Ile248=
ENST00000366684.7:c.1113C= MANE Select ENSP00000355645.3:p.Ile371=
NM_001100.3:c.1113C= , LRG_429t1:c.1113C= NP_001091.1:p.Ile371=
NM_001100.4:c.1113C= MANE Select NP_001091.1:p.Ile371=
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