Canonical Allele Identifier: CA345147289
Gene: ACTA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.229567902T>G (hg19) chr1:g.229432155T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432155T>G , CM000663.2:g.229432155T>G GRCh38
NC_000001.10:g.229567902T>G , CM000663.1:g.229567902T>G GRCh37
NC_000001.9:g.227634525T>G NCBI36
NG_006672.1:g.6942A>C , LRG_429:g.6942A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.647A>C ENSP00000355644.4:p.Glu216Ala
ENST00000684723.1:c.512A>C ENSP00000508084.1:p.Glu171Ala
ENST00000366683.3:c.479+252A>C ENSP00000355644.3:n.479+252A>C
ENST00000366684.7:c.647A>C MANE Select ENSP00000355645.3:p.Glu216Ala
NM_001100.3:c.647A>C , LRG_429t1:c.647A>C NP_001091.1:p.Glu216Ala
NM_001100.4:c.647A>C MANE Select NP_001091.1:p.Glu216Ala
Search 100 bp 5'
Search 100 bp 3'