Canonical Allele Identifier: CA2627661167
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

gnomAD v4: 15-34788929-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34788929C>A , CM000677.2:g.34788929C>A GRCh38
NC_000015.9:g.35081130C>A , CM000677.1:g.35081130C>A GRCh37
NC_000015.8:g.32868422C>A NCBI36
NG_007553.1:g.11798G>T , LRG_388:g.11798G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000290378.4:c.*1483G>T (ACTC1) ENSP00000290378.4:n.*1483G>T
NM_005159.4:c.*1483G>T , LRG_388t1:c.*1483G>T (ACTC1) NP_005150.1:n.*1483G>T
NR_120329.1:n.299+11498C>A (GJD2-DT)
Search 100 bp 5'
Search 100 bp 3'