Canonical Allele Identifier: CA423755006
Gene: ACTA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.229567799G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432052G>A , CM000663.2:g.229432052G>A GRCh38
NC_000001.10:g.229567799G>A , CM000663.1:g.229567799G>A GRCh37
NC_000001.9:g.227634422G>A NCBI36
NG_006672.1:g.7045C>T , LRG_429:g.7045C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.750C>T ENSP00000355644.4:p.Ile250=
ENST00000684723.1:c.615C>T ENSP00000508084.1:p.Ile205=
ENST00000366683.3:c.480-190C>T ENSP00000355644.3:n.480-190C>T
ENST00000366684.7:c.750C>T MANE Select ENSP00000355645.3:p.Ile250=
NM_001100.3:c.750C>T , LRG_429t1:c.750C>T NP_001091.1:p.Ile250=
NM_001100.4:c.750C>T MANE Select NP_001091.1:p.Ile250=
Search 100 bp 5'
Search 100 bp 3'