Canonical Allele Identifier: CA2748068678
Gene: ACTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432452G>A , CM000663.2:g.229432452G>A GRCh38
NC_000001.10:g.229568199G>A , CM000663.1:g.229568199G>A GRCh37
NC_000001.9:g.227634822G>A NCBI36
NG_006672.1:g.6645C>T , LRG_429:g.6645C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.455-21C>T ENSP00000355644.4:n.455-21C>T
ENST00000684723.1:c.320-21C>T ENSP00000508084.1:n.320-21C>T
ENST00000366683.3:c.455-21C>T ENSP00000355644.3:n.455-21C>T
ENST00000366684.7:c.455-21C>T MANE Select ENSP00000355645.3:n.455-21C>T
NM_001100.3:c.455-21C>T , LRG_429t1:c.455-21C>T NP_001091.1:n.455-21C>T
NM_001100.4:c.455-21C>T MANE Select NP_001091.1:n.455-21C>T