Canonical Allele Identifier: CA2169202399
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1595759599
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34789729T>G , CM000677.2:g.34789729T>G GRCh38
NC_000015.9:g.35081930T>G , CM000677.1:g.35081930T>G GRCh37
NC_000015.8:g.32869222T>G NCBI36
NG_007553.1:g.10998A>C , LRG_388:g.10998A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000290378.4:c.*683A>C (ACTC1) ENSP00000290378.4:n.*683A>C
NM_005159.4:c.*683A>C , LRG_388t1:c.*683A>C (ACTC1) NP_005150.1:n.*683A>C
NR_120329.1:n.299+12298T>G (GJD2-DT)
Search 100 bp 5'
Search 100 bp 3'