Canonical Allele Identifier: CA019814
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 180757
dbSNP Id: rs730880392
COSMIC: COSM395569

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792495T>C , CM000677.2:g.34792495T>C GRCh38
NC_000015.9:g.35084696T>C , CM000677.1:g.35084696T>C GRCh37
NC_000015.8:g.32871988T>C NCBI36
NG_007553.1:g.8232A>G , LRG_388:g.8232A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.635A>G (ACTC1)
ENST00000290378.6:c.529A>G (ACTC1) MANE Select ENSP00000290378.4:p.Ile177Val
ENST00000647798.1:n.623A>G (ACTC1)
ENST00000648556.1:n.686A>G (ACTC1)
ENST00000650163.1:n.609A>G (ACTC1)
ENST00000290378.4:c.529A>G (ACTC1) ENSP00000290378.4:p.Ile177Val
ENST00000557860.1:n.219A>G (ACTC1)
ENST00000560563.1:n.28A>G (ACTC1)
NM_005159.4:c.529A>G , LRG_388t1:c.529A>G (ACTC1) NP_005150.1:p.Ile177Val
NR_120329.1:n.299+15064T>C (GJD2-DT)
NM_005159.5:c.529A>G (ACTC1) MANE Select NP_005150.1:p.Ile177Val