Canonical Allele Identifier: CA345149291
Gene: ACTA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.229568347G>A (hg19) chr1:g.229432600G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432600G>A , CM000663.2:g.229432600G>A GRCh38
NC_000001.10:g.229568347G>A , CM000663.1:g.229568347G>A GRCh37
NC_000001.9:g.227634970G>A NCBI36
NG_006672.1:g.6497C>T , LRG_429:g.6497C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.410C>T ENSP00000355644.4:p.Ala137Val
ENST00000684723.1:c.275C>T ENSP00000508084.1:p.Ala92Val
ENST00000366683.3:c.410C>T ENSP00000355644.3:p.Ala137Val
ENST00000366684.7:c.410C>T MANE Select ENSP00000355645.3:p.Ala137Val
NM_001100.3:c.410C>T , LRG_429t1:c.410C>T NP_001091.1:p.Ala137Val
NM_001100.4:c.410C>T MANE Select NP_001091.1:p.Ala137Val
Search 100 bp 5'
Search 100 bp 3'