Canonical Allele Identifier: CA968568729
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1891660082
gnomAD v3: 15-34789819-A-T
gnomAD v4: 15-34789819-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34789819A>T , CM000677.2:g.34789819A>T GRCh38
NC_000015.9:g.35082020A>T , CM000677.1:g.35082020A>T GRCh37
NC_000015.8:g.32869312A>T NCBI36
NG_007553.1:g.10908T>A , LRG_388:g.10908T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000290378.4:c.*593T>A (ACTC1) ENSP00000290378.4:n.*593T>A
NM_005159.4:c.*593T>A , LRG_388t1:c.*593T>A (ACTC1) NP_005150.1:n.*593T>A
NR_120329.1:n.299+12388A>T (GJD2-DT)
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