Canonical Allele Identifier: CA2169203409
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1891669610
gnomAD v4: 15-34790184-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34790184C>T , CM000677.2:g.34790184C>T GRCh38
NC_000015.9:g.35082385C>T , CM000677.1:g.35082385C>T GRCh37
NC_000015.8:g.32869677C>T NCBI36
NG_007553.1:g.10543G>A , LRG_388:g.10543G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.2262G>A (ACTC1)
ENST00000290378.4:c.*228G>A (ACTC1) ENSP00000290378.4:n.*228G>A
NM_005159.4:c.*228G>A , LRG_388t1:c.*228G>A (ACTC1) NP_005150.1:n.*228G>A
NR_120329.1:n.299+12753C>T (GJD2-DT)
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