Canonical Allele Identifier: CA2169200319
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1891634599
gnomAD v4: 15-34788739-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34788739A>G , CM000677.2:g.34788739A>G GRCh38
NC_000015.9:g.35080940A>G , CM000677.1:g.35080940A>G GRCh37
NC_000015.8:g.32868232A>G NCBI36
NG_007553.1:g.11988T>C , LRG_388:g.11988T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000290378.4:c.*1673T>C (ACTC1) ENSP00000290378.4:n.*1673T>C
NM_005159.4:c.*1673T>C , LRG_388t1:c.*1673T>C (ACTC1) NP_005150.1:n.*1673T>C
NR_120329.1:n.299+11308A>G (GJD2-DT)
Search 100 bp 5'
Search 100 bp 3'