Canonical Allele Identifier: CA10645761
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 315687
ClinVar RCV Id: RCV000304653 RCV000303315 RCV000358212 RCV000364036 RCV000394968
dbSNP Id: rs886051081
MyVariant Identifiers: chr15:g.35081970G>T (hg19) chr15:g.34789769G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34789769G>T , CM000677.2:g.34789769G>T GRCh38
NC_000015.9:g.35081970G>T , CM000677.1:g.35081970G>T GRCh37
NC_000015.8:g.32869262G>T NCBI36
NG_007553.1:g.10958C>A , LRG_388:g.10958C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000290378.4:c.*643C>A (ACTC1) ENSP00000290378.4:n.*643C>A
NM_005159.4:c.*643C>A , LRG_388t1:c.*643C>A (ACTC1) NP_005150.1:n.*643C>A
NR_120329.1:n.299+12338G>T (GJD2-DT)
Search 100 bp 5'
Search 100 bp 3'