Canonical Allele Identifier: CA423755030
Gene: ACTA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.229567549C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431802C>A , CM000663.2:g.229431802C>A GRCh38
NC_000001.10:g.229567549C>A , CM000663.1:g.229567549C>A GRCh37
NC_000001.9:g.227634172C>A NCBI36
NG_006672.1:g.7295G>T , LRG_429:g.7295G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.909G>T ENSP00000355644.4:p.Gly303=
ENST00000684723.1:c.774G>T ENSP00000508084.1:p.Gly258=
ENST00000366683.3:c.540G>T ENSP00000355644.3:p.Gly180=
ENST00000366684.7:c.909G>T MANE Select ENSP00000355645.3:p.Gly303=
NM_001100.3:c.909G>T , LRG_429t1:c.909G>T NP_001091.1:p.Gly303=
NM_001100.4:c.909G>T MANE Select NP_001091.1:p.Gly303=