Canonical Allele Identifier: CA345147155
Gene: ACTA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432131T>C , CM000663.2:g.229432131T>C GRCh38
NC_000001.10:g.229567878T>C , CM000663.1:g.229567878T>C GRCh37
NC_000001.9:g.227634501T>C NCBI36
NG_006672.1:g.6966A>G , LRG_429:g.6966A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.671A>G ENSP00000355644.4:p.Asp224Gly
ENST00000684723.1:c.536A>G ENSP00000508084.1:p.Asp179Gly
ENST00000366683.3:c.480-269A>G ENSP00000355644.3:n.480-269A>G
ENST00000366684.7:c.671A>G MANE Select ENSP00000355645.3:p.Asp224Gly
NM_001100.3:c.671A>G , LRG_429t1:c.671A>G NP_001091.1:p.Asp224Gly
NM_001100.4:c.671A>G MANE Select NP_001091.1:p.Asp224Gly