Canonical Allele Identifier: CA2627661066
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs920001464
gnomAD v4: 15-34788663-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34788663G>T , CM000677.2:g.34788663G>T GRCh38
NC_000015.9:g.35080864G>T , CM000677.1:g.35080864G>T GRCh37
NC_000015.8:g.32868156G>T NCBI36
NG_007553.1:g.12064C>A , LRG_388:g.12064C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000290378.4:c.*1749C>A (ACTC1) ENSP00000290378.4:n.*1749C>A
NM_005159.4:c.*1749C>A , LRG_388t1:c.*1749C>A (ACTC1) NP_005150.1:n.*1749C>A
NR_120329.1:n.299+11232G>T (GJD2-DT)
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