Canonical Allele Identifier: CA10645762
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 315688
ClinVar RCV Id: RCV000269592 RCV000329320
dbSNP Id: rs886051082
gnomAD v4: 15-34789793-T-A
MyVariant Identifiers: chr15:g.35081994T>A (hg19) chr15:g.34789793T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34789793T>A , CM000677.2:g.34789793T>A GRCh38
NC_000015.9:g.35081994T>A , CM000677.1:g.35081994T>A GRCh37
NC_000015.8:g.32869286T>A NCBI36
NG_007553.1:g.10934A>T , LRG_388:g.10934A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000290378.4:c.*619A>T (ACTC1) ENSP00000290378.4:n.*619A>T
NM_005159.4:c.*619A>T , LRG_388t1:c.*619A>T (ACTC1) NP_005150.1:n.*619A>T
NR_120329.1:n.299+12362T>A (GJD2-DT)
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