Canonical Allele Identifier: CA391631552
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 538806
ClinVar RCV Id: RCV000648297
dbSNP Id: rs1555418891

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793406A>G , CM000677.2:g.34793406A>G GRCh38
NC_000015.9:g.35085607A>G , CM000677.1:g.35085607A>G GRCh37
NC_000015.8:g.32872899A>G NCBI36
NG_007553.1:g.7321T>C , LRG_388:g.7321T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.399T>C (ACTC1)
ENST00000290378.6:c.293T>C (ACTC1) MANE Select ENSP00000290378.4:p.Val98Ala
ENST00000647798.1:n.440T>C (ACTC1)
ENST00000648556.1:n.450T>C (ACTC1)
ENST00000650163.1:n.373T>C (ACTC1)
ENST00000290378.4:c.293T>C (ACTC1) ENSP00000290378.4:p.Val98Ala
NM_005159.4:c.293T>C , LRG_388t1:c.293T>C (ACTC1) NP_005150.1:p.Val98Ala
NR_120329.1:n.299+15975A>G (GJD2-DT)
NM_005159.5:c.293T>C (ACTC1) MANE Select NP_005150.1:p.Val98Ala