Canonical Allele Identifier: CA968568904
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1891669672
gnomAD v3: 15-34790186-T-G
gnomAD v4: 15-34790186-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34790186T>G , CM000677.2:g.34790186T>G GRCh38
NC_000015.9:g.35082387T>G , CM000677.1:g.35082387T>G GRCh37
NC_000015.8:g.32869679T>G NCBI36
NG_007553.1:g.10541A>C , LRG_388:g.10541A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.2260A>C (ACTC1)
ENST00000290378.4:c.*226A>C (ACTC1) ENSP00000290378.4:n.*226A>C
NM_005159.4:c.*226A>C , LRG_388t1:c.*226A>C (ACTC1) NP_005150.1:n.*226A>C
NR_120329.1:n.299+12755T>G (GJD2-DT)
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