Canonical Allele Identifier: CA968568091
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1891629575
gnomAD v3: 15-34788619-A-G
gnomAD v4: 15-34788619-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34788619A>G , CM000677.2:g.34788619A>G GRCh38
NC_000015.9:g.35080820A>G , CM000677.1:g.35080820A>G GRCh37
NC_000015.8:g.32868112A>G NCBI36
NG_007553.1:g.12108T>C , LRG_388:g.12108T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000290378.4:c.*1793T>C (ACTC1) ENSP00000290378.4:n.*1793T>C
NM_005159.4:c.*1793T>C , LRG_388t1:c.*1793T>C (ACTC1) NP_005150.1:n.*1793T>C
NR_120329.1:n.299+11188A>G (GJD2-DT)
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