Canonical Allele Identifier: CA1145060616
Gene: ACTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432154C= , CM000663.2:g.229432154C= GRCh38
NC_000001.10:g.229567901C= , CM000663.1:g.229567901C= GRCh37
NC_000001.9:g.227634524C= NCBI36
NG_006672.1:g.6943G= , LRG_429:g.6943G=

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.648G= ENSP00000355644.4:p.Glu216=
ENST00000684723.1:c.513G= ENSP00000508084.1:p.Glu171=
ENST00000366683.3:c.479+253G= ENSP00000355644.3:n.479+253G=
ENST00000366684.7:c.648G= MANE Select ENSP00000355645.3:p.Glu216=
NM_001100.3:c.648G= , LRG_429t1:c.648G= NP_001091.1:p.Glu216=
NM_001100.4:c.648G= MANE Select NP_001091.1:p.Glu216=