Canonical Allele Identifier: CA1226125607
Gene: ACTA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431986G= , CM000663.2:g.229431986G= GRCh38
NC_000001.10:g.229567733G= , CM000663.1:g.229567733G= GRCh37
NC_000001.9:g.227634356G= NCBI36
NG_006672.1:g.7111C= , LRG_429:g.7111C=

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.808+8C= ENSP00000355644.4:n.808+8C=
ENST00000684723.1:c.673+8C= ENSP00000508084.1:n.673+8C=
ENST00000366683.3:c.480-124C= ENSP00000355644.3:n.480-124C=
ENST00000366684.7:c.808+8C= MANE Select ENSP00000355645.3:n.808+8C=
NM_001100.3:c.808+8C= , LRG_429t1:c.808+8C= NP_001091.1:n.808+8C=
NM_001100.4:c.808+8C= MANE Select NP_001091.1:n.808+8C=
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