Canonical Allele Identifier: CA489655664
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 922375
ClinVar RCV Id: RCV001182412
dbSNP Id: rs1201685758

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793285G>T , CM000677.2:g.34793285G>T GRCh38
NC_000015.9:g.35085486G>T , CM000677.1:g.35085486G>T GRCh37
NC_000015.8:g.32872778G>T NCBI36
NG_007553.1:g.7442C>A , LRG_388:g.7442C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.520C>A (ACTC1)
ENST00000290378.6:c.414C>A (ACTC1) MANE Select ENSP00000290378.4:p.Ile138=
ENST00000647798.1:n.548+13C>A (ACTC1)
ENST00000648556.1:n.571C>A (ACTC1)
ENST00000650163.1:n.494C>A (ACTC1)
ENST00000290378.4:c.414C>A (ACTC1) ENSP00000290378.4:p.Ile138=
NM_005159.4:c.414C>A , LRG_388t1:c.414C>A (ACTC1) NP_005150.1:p.Ile138=
NR_120329.1:n.299+15854G>T (GJD2-DT)
NM_005159.5:c.414C>A (ACTC1) MANE Select NP_005150.1:p.Ile138=