Canonical Allele Identifier: CA345147396
Gene: ACTA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432168G>T , CM000663.2:g.229432168G>T GRCh38
NC_000001.10:g.229567915G>T , CM000663.1:g.229567915G>T GRCh37
NC_000001.9:g.227634538G>T NCBI36
NG_006672.1:g.6929C>A , LRG_429:g.6929C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.634C>A ENSP00000355644.4:p.Arg212Ser
ENST00000684723.1:c.499C>A ENSP00000508084.1:p.Arg167Ser
ENST00000366683.3:c.479+239C>A ENSP00000355644.3:n.479+239C>A
ENST00000366684.7:c.634C>A MANE Select ENSP00000355645.3:p.Arg212Ser
NM_001100.3:c.634C>A , LRG_429t1:c.634C>A NP_001091.1:p.Arg212Ser
NM_001100.4:c.634C>A MANE Select NP_001091.1:p.Arg212Ser