Canonical Allele Identifier: CA2627661887
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

gnomAD v4: 15-34790182-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34790182C>T , CM000677.2:g.34790182C>T GRCh38
NC_000015.9:g.35082383C>T , CM000677.1:g.35082383C>T GRCh37
NC_000015.8:g.32869675C>T NCBI36
NG_007553.1:g.10545G>A , LRG_388:g.10545G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.2264G>A (ACTC1)
ENST00000290378.4:c.*230G>A (ACTC1) ENSP00000290378.4:n.*230G>A
NM_005159.4:c.*230G>A , LRG_388t1:c.*230G>A (ACTC1) NP_005150.1:n.*230G>A
NR_120329.1:n.299+12751C>T (GJD2-DT)
Search 100 bp 5'
Search 100 bp 3'