Canonical Allele Identifier: CA345145521
Gene: ACTA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431761T>G , CM000663.2:g.229431761T>G GRCh38
NC_000001.10:g.229567508T>G , CM000663.1:g.229567508T>G GRCh37
NC_000001.9:g.227634131T>G NCBI36
NG_006672.1:g.7336A>C , LRG_429:g.7336A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.950A>C ENSP00000355644.4:p.Lys317Thr
ENST00000684723.1:c.815A>C ENSP00000508084.1:p.Lys272Thr
ENST00000366683.3:c.581A>C ENSP00000355644.3:p.Lys194Thr
ENST00000366684.7:c.950A>C MANE Select ENSP00000355645.3:p.Lys317Thr
NM_001100.3:c.950A>C , LRG_429t1:c.950A>C NP_001091.1:p.Lys317Thr
NM_001100.4:c.950A>C MANE Select NP_001091.1:p.Lys317Thr