Canonical Allele Identifier: CA712313289
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1458939899
gnomAD v3: 15-34788653-A-T
gnomAD v4: 15-34788653-A-T
MyVariant Identifiers: chr15:g.35080854A>T (hg19) chr15:g.34788653A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34788653A>T , CM000677.2:g.34788653A>T GRCh38
NC_000015.9:g.35080854A>T , CM000677.1:g.35080854A>T GRCh37
NC_000015.8:g.32868146A>T NCBI36
NG_007553.1:g.12074T>A , LRG_388:g.12074T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000290378.4:c.*1759T>A (ACTC1) ENSP00000290378.4:n.*1759T>A
NM_005159.4:c.*1759T>A , LRG_388t1:c.*1759T>A (ACTC1) NP_005150.1:n.*1759T>A
NR_120329.1:n.299+11222A>T (GJD2-DT)
Search 100 bp 5'
Search 100 bp 3'