Canonical Allele Identifier: CA968568245
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1891639162
gnomAD v3: 15-34788965-T-C
gnomAD v4: 15-34788965-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34788965T>C , CM000677.2:g.34788965T>C GRCh38
NC_000015.9:g.35081166T>C , CM000677.1:g.35081166T>C GRCh37
NC_000015.8:g.32868458T>C NCBI36
NG_007553.1:g.11762A>G , LRG_388:g.11762A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000290378.4:c.*1447A>G (ACTC1) ENSP00000290378.4:n.*1447A>G
NM_005159.4:c.*1447A>G , LRG_388t1:c.*1447A>G (ACTC1) NP_005150.1:n.*1447A>G
NR_120329.1:n.299+11534T>C (GJD2-DT)
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