Canonical Allele Identifier: CA345147285
Gene: ACTA1 HGNC NCBI

Linked Data

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

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

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.647A>G ENSP00000355644.4:p.Glu216Gly
ENST00000684723.1:c.512A>G ENSP00000508084.1:p.Glu171Gly
ENST00000366683.3:c.479+252A>G ENSP00000355644.3:n.479+252A>G
ENST00000366684.7:c.647A>G MANE Select ENSP00000355645.3:p.Glu216Gly
NM_001100.3:c.647A>G , LRG_429t1:c.647A>G NP_001091.1:p.Glu216Gly
NM_001100.4:c.647A>G MANE Select NP_001091.1:p.Glu216Gly
Search 100 bp 5'
Search 100 bp 3'