Canonical Allele Identifier: CA345147100
Gene: ACTA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.229567868G>T (hg19) chr1:g.229432121G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432121G>T , CM000663.2:g.229432121G>T GRCh38
NC_000001.10:g.229567868G>T , CM000663.1:g.229567868G>T GRCh37
NC_000001.9:g.227634491G>T NCBI36
NG_006672.1:g.6976C>A , LRG_429:g.6976C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.681C>A ENSP00000355644.4:p.Asn227Lys
ENST00000684723.1:c.546C>A ENSP00000508084.1:p.Asn182Lys
ENST00000366683.3:c.480-259C>A ENSP00000355644.3:n.480-259C>A
ENST00000366684.7:c.681C>A MANE Select ENSP00000355645.3:p.Asn227Lys
NM_001100.3:c.681C>A , LRG_429t1:c.681C>A NP_001091.1:p.Asn227Lys
NM_001100.4:c.681C>A MANE Select NP_001091.1:p.Asn227Lys
Search 100 bp 5'
Search 100 bp 3'