Canonical Allele Identifier: CA345145581
Gene: ACTA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431773T>C , CM000663.2:g.229431773T>C GRCh38
NC_000001.10:g.229567520T>C , CM000663.1:g.229567520T>C GRCh37
NC_000001.9:g.227634143T>C NCBI36
NG_006672.1:g.7324A>G , LRG_429:g.7324A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.938A>G ENSP00000355644.4:p.Asp313Gly
ENST00000684723.1:c.803A>G ENSP00000508084.1:p.Asp268Gly
ENST00000366683.3:c.569A>G ENSP00000355644.3:p.Asp190Gly
ENST00000366684.7:c.938A>G MANE Select ENSP00000355645.3:p.Asp313Gly
NM_001100.3:c.938A>G , LRG_429t1:c.938A>G NP_001091.1:p.Asp313Gly
NM_001100.4:c.938A>G MANE Select NP_001091.1:p.Asp313Gly