Canonical Allele Identifier: CA268660022
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 885082
ClinVar RCV Id: RCV001116484 RCV001116485 RCV001712853
dbSNP Id: rs149031785
gnomAD v2: 15-35082476-T-A
gnomAD v3: 15-34790275-T-A
gnomAD v4: 15-34790275-T-A
MyVariant Identifiers: chr15:g.35082476T>A (hg19) chr15:g.34790275T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34790275T>A , CM000677.2:g.34790275T>A GRCh38
NC_000015.9:g.35082476T>A , CM000677.1:g.35082476T>A GRCh37
NC_000015.8:g.32869768T>A NCBI36
NG_007553.1:g.10452A>T , LRG_388:g.10452A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.2171A>T (ACTC1)
ENST00000290378.6:c.*137A>T (ACTC1) MANE Select ENSP00000290378.4:n.*137A>T
ENST00000647798.1:n.1365A>T (ACTC1)
ENST00000650163.1:n.1351A>T (ACTC1)
ENST00000290378.4:c.*137A>T (ACTC1) ENSP00000290378.4:n.*137A>T
NM_005159.4:c.*137A>T , LRG_388t1:c.*137A>T (ACTC1) NP_005150.1:n.*137A>T
NR_120329.1:n.299+12844T>A (GJD2-DT)
NM_005159.5:c.*137A>T (ACTC1) MANE Select NP_005150.1:n.*137A>T
Search 100 bp 5'
Search 100 bp 3'