Canonical Allele Identifier: CA712313756
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1291471762
gnomAD v4: 15-34789414-C-T
MyVariant Identifiers: chr15:g.35081615C>T (hg19) chr15:g.34789414C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34789414C>T , CM000677.2:g.34789414C>T GRCh38
NC_000015.9:g.35081615C>T , CM000677.1:g.35081615C>T GRCh37
NC_000015.8:g.32868907C>T NCBI36
NG_007553.1:g.11313G>A , LRG_388:g.11313G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000290378.4:c.*998G>A (ACTC1) ENSP00000290378.4:n.*998G>A
NM_005159.4:c.*998G>A , LRG_388t1:c.*998G>A (ACTC1) NP_005150.1:n.*998G>A
NR_120329.1:n.299+11983C>T (GJD2-DT)
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