Canonical Allele Identifier: CA268662382
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 1748233
ClinVar RCV Id: RCV002351923 RCV003418469 RCV003103188 RCV003328698
dbSNP Id: rs866147243
MyVariant Identifiers: chr15:g.35084671C>T (hg19) chr15:g.34792470C>T (hg38)
PubMed: PMID:27479907
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792470C>T , CM000677.2:g.34792470C>T GRCh38
NC_000015.9:g.35084671C>T , CM000677.1:g.35084671C>T GRCh37
NC_000015.8:g.32871963C>T NCBI36
NG_007553.1:g.8257G>A , LRG_388:g.8257G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.660G>A (ACTC1)
ENST00000290378.6:c.554G>A (ACTC1) MANE Select ENSP00000290378.4:p.Arg185Gln
ENST00000647798.1:n.648G>A (ACTC1)
ENST00000648556.1:n.711G>A (ACTC1)
ENST00000650163.1:n.634G>A (ACTC1)
ENST00000290378.4:c.554G>A (ACTC1) ENSP00000290378.4:p.Arg185Gln
ENST00000557860.1:n.244G>A (ACTC1)
ENST00000560563.1:n.53G>A (ACTC1)
NM_005159.4:c.554G>A , LRG_388t1:c.554G>A (ACTC1) NP_005150.1:p.Arg185Gln
NR_120329.1:n.299+15039C>T (GJD2-DT)
NM_005159.5:c.554G>A (ACTC1) MANE Select NP_005150.1:p.Arg185Gln
Search 100 bp 5'
Search 100 bp 3'