Canonical Allele Identifier: CA1226125492
Community Standard Title: NM_001100.4(ACTA1):c.923A= (p.Tyr308=)
Gene: ACTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431788T= , CM000663.2:g.229431788T= GRCh38
NC_000001.10:g.229567535T= , CM000663.1:g.229567535T= GRCh37
NC_000001.9:g.227634158T= NCBI36
NG_006672.1:g.7309A= , LRG_429:g.7309A=

Transcript Alleles

HGVS Amino-acid Change
NM_001100.4:c.923A= MANE Select NP_001091.1:p.Tyr308=
ENST00000366684.7:c.923A= MANE Select ENSP00000355645.3:p.Tyr308=
NM_001100.3:c.923A= , LRG_429t1:c.923A= NP_001091.1:p.Tyr308=
ENST00000366683.3:c.554A= ENSP00000355644.3:p.Tyr185=
ENST00000366683.4:c.923A= ENSP00000355644.4:p.Tyr308=
ENST00000684723.1:c.788A= ENSP00000508084.1:p.Tyr263=