Canonical Allele Identifier: CA968568127
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1891630489
gnomAD v3: 15-34788646-A-G
gnomAD v4: 15-34788646-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34788646A>G , CM000677.2:g.34788646A>G GRCh38
NC_000015.9:g.35080847A>G , CM000677.1:g.35080847A>G GRCh37
NC_000015.8:g.32868139A>G NCBI36
NG_007553.1:g.12081T>C , LRG_388:g.12081T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000290378.4:c.*1766T>C (ACTC1) ENSP00000290378.4:n.*1766T>C
NM_005159.4:c.*1766T>C , LRG_388t1:c.*1766T>C (ACTC1) NP_005150.1:n.*1766T>C
NR_120329.1:n.299+11215A>G (GJD2-DT)
Search 100 bp 5'
Search 100 bp 3'