Canonical Allele Identifier: CA968568352
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1755668693
gnomAD v3: 15-34789186-T-C
gnomAD v4: 15-34789186-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34789186T>C , CM000677.2:g.34789186T>C GRCh38
NC_000015.9:g.35081387T>C , CM000677.1:g.35081387T>C GRCh37
NC_000015.8:g.32868679T>C NCBI36
NG_007553.1:g.11541A>G , LRG_388:g.11541A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000290378.4:c.*1226A>G (ACTC1) ENSP00000290378.4:n.*1226A>G
NM_005159.4:c.*1226A>G , LRG_388t1:c.*1226A>G (ACTC1) NP_005150.1:n.*1226A>G
NR_120329.1:n.299+11755T>C (GJD2-DT)
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