Canonical Allele Identifier: CA268659795
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs918355027
gnomAD v2: 15-35082239-T-G
gnomAD v3: 15-34790038-T-G
gnomAD v4: 15-34790038-T-G
MyVariant Identifiers: chr15:g.35082239T>G (hg19) chr15:g.34790038T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34790038T>G , CM000677.2:g.34790038T>G GRCh38
NC_000015.9:g.35082239T>G , CM000677.1:g.35082239T>G GRCh37
NC_000015.8:g.32869531T>G NCBI36
NG_007553.1:g.10689A>C , LRG_388:g.10689A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000290378.4:c.*374A>C (ACTC1) ENSP00000290378.4:n.*374A>C
NM_005159.4:c.*374A>C , LRG_388t1:c.*374A>C (ACTC1) NP_005150.1:n.*374A>C
NR_120329.1:n.299+12607T>G (GJD2-DT)
Search 100 bp 5'
Search 100 bp 3'