Canonical Allele Identifier: CA2169200748
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1891638830
gnomAD v4: 15-34788951-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34788951C>T , CM000677.2:g.34788951C>T GRCh38
NC_000015.9:g.35081152C>T , CM000677.1:g.35081152C>T GRCh37
NC_000015.8:g.32868444C>T NCBI36
NG_007553.1:g.11776G>A , LRG_388:g.11776G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000290378.4:c.*1461G>A (ACTC1) ENSP00000290378.4:n.*1461G>A
NM_005159.4:c.*1461G>A , LRG_388t1:c.*1461G>A (ACTC1) NP_005150.1:n.*1461G>A
NR_120329.1:n.299+11520C>T (GJD2-DT)
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