Canonical Allele Identifier: CA2627661119
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

gnomAD v4: 15-34788760-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34788760G>T , CM000677.2:g.34788760G>T GRCh38
NC_000015.9:g.35080961G>T , CM000677.1:g.35080961G>T GRCh37
NC_000015.8:g.32868253G>T NCBI36
NG_007553.1:g.11967C>A , LRG_388:g.11967C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000290378.4:c.*1652C>A (ACTC1) ENSP00000290378.4:n.*1652C>A
NM_005159.4:c.*1652C>A , LRG_388t1:c.*1652C>A (ACTC1) NP_005150.1:n.*1652C>A
NR_120329.1:n.299+11329G>T (GJD2-DT)
Search 100 bp 5'
Search 100 bp 3'