Canonical Allele Identifier: CA2627661056
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

gnomAD v4: 15-34788640-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34788640T>A , CM000677.2:g.34788640T>A GRCh38
NC_000015.9:g.35080841T>A , CM000677.1:g.35080841T>A GRCh37
NC_000015.8:g.32868133T>A NCBI36
NG_007553.1:g.12087A>T , LRG_388:g.12087A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000290378.4:c.*1772A>T (ACTC1) ENSP00000290378.4:n.*1772A>T
NM_005159.4:c.*1772A>T , LRG_388t1:c.*1772A>T (ACTC1) NP_005150.1:n.*1772A>T
NR_120329.1:n.299+11209T>A (GJD2-DT)
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