Canonical Allele Identifier: CA423754898
Gene: ACTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431727C>T , CM000663.2:g.229431727C>T GRCh38
NC_000001.10:g.229567474C>T , CM000663.1:g.229567474C>T GRCh37
NC_000001.9:g.227634097C>T NCBI36
NG_006672.1:g.7370G>A , LRG_429:g.7370G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.984G>A ENSP00000355644.4:p.Lys328=
ENST00000684723.1:c.849G>A ENSP00000508084.1:p.Lys283=
ENST00000366683.3:c.615G>A ENSP00000355644.3:p.Lys205=
ENST00000366684.7:c.984G>A MANE Select ENSP00000355645.3:p.Lys328=
NM_001100.3:c.984G>A , LRG_429t1:c.984G>A NP_001091.1:p.Lys328=
NM_001100.4:c.984G>A MANE Select NP_001091.1:p.Lys328=