Canonical Allele Identifier: CA1226125361
Gene: ACTA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431506C= , CM000663.2:g.229431506C= GRCh38
NC_000001.10:g.229567253C= , CM000663.1:g.229567253C= GRCh37
NC_000001.9:g.227633876C= NCBI36
NG_006672.1:g.7591G= , LRG_429:g.7591G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.1049G= ENSP00000355644.4:p.Cys350=
ENST00000684723.1:c.992G= ENSP00000508084.1:p.Cys331=
ENST00000366683.3:c.758G= ENSP00000355644.3:p.Cys253=
ENST00000366684.7:c.1127G= MANE Select ENSP00000355645.3:p.Cys376=
NM_001100.3:c.1127G= , LRG_429t1:c.1127G= NP_001091.1:p.Cys376=
NM_001100.4:c.1127G= MANE Select NP_001091.1:p.Cys376=
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