Canonical Allele Identifier: CA2169201678
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1595759465
gnomAD v4: 15-34789450-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34789450C>T , CM000677.2:g.34789450C>T GRCh38
NC_000015.9:g.35081651C>T , CM000677.1:g.35081651C>T GRCh37
NC_000015.8:g.32868943C>T NCBI36
NG_007553.1:g.11277G>A , LRG_388:g.11277G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000290378.4:c.*962G>A (ACTC1) ENSP00000290378.4:n.*962G>A
NM_005159.4:c.*962G>A , LRG_388t1:c.*962G>A (ACTC1) NP_005150.1:n.*962G>A
NR_120329.1:n.299+12019C>T (GJD2-DT)
Search 100 bp 5'
Search 100 bp 3'