Canonical Allele Identifier: CA1226125489
Gene: ACTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431781C= , CM000663.2:g.229431781C= GRCh38
NC_000001.10:g.229567528C= , CM000663.1:g.229567528C= GRCh37
NC_000001.9:g.227634151C= NCBI36
NG_006672.1:g.7316G= , LRG_429:g.7316G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.930G= ENSP00000355644.4:p.Gly310=
ENST00000684723.1:c.795G= ENSP00000508084.1:p.Gly265=
ENST00000366683.3:c.561G= ENSP00000355644.3:p.Gly187=
ENST00000366684.7:c.930G= MANE Select ENSP00000355645.3:p.Gly310=
NM_001100.3:c.930G= , LRG_429t1:c.930G= NP_001091.1:p.Gly310=
NM_001100.4:c.930G= MANE Select NP_001091.1:p.Gly310=