Canonical Allele Identifier: CA1226125774
Gene: ACTA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432425A= , CM000663.2:g.229432425A= GRCh38
NC_000001.10:g.229568172A= , CM000663.1:g.229568172A= GRCh37
NC_000001.9:g.227634795A= NCBI36
NG_006672.1:g.6672T= , LRG_429:g.6672T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.461T= ENSP00000355644.4:p.Val154=
ENST00000684723.1:c.326T= ENSP00000508084.1:p.Val109=
ENST00000366683.3:c.461T= ENSP00000355644.3:p.Val154=
ENST00000366684.7:c.461T= MANE Select ENSP00000355645.3:p.Val154=
NM_001100.3:c.461T= , LRG_429t1:c.461T= NP_001091.1:p.Val154=
NM_001100.4:c.461T= MANE Select NP_001091.1:p.Val154=
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