Canonical Allele Identifier: CA10646876
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 315699
ClinVar RCV Id: RCV000280418 RCV000303112 RCV000337845 RCV000360169 RCV000405824
dbSNP Id: rs551820554
MyVariant Identifiers: chr15:g.35082389C>G (hg19) chr15:g.34790188C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34790188C>G , CM000677.2:g.34790188C>G GRCh38
NC_000015.9:g.35082389C>G , CM000677.1:g.35082389C>G GRCh37
NC_000015.8:g.32869681C>G NCBI36
NG_007553.1:g.10539G>C , LRG_388:g.10539G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.2258G>C (ACTC1)
ENST00000290378.4:c.*224G>C (ACTC1) ENSP00000290378.4:n.*224G>C
NM_005159.4:c.*224G>C , LRG_388t1:c.*224G>C (ACTC1) NP_005150.1:n.*224G>C
NR_120329.1:n.299+12757C>G (GJD2-DT)
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