Canonical Allele Identifier: CA10646866
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 315692
ClinVar RCV Id: RCV000260753 RCV000277520 RCV000318272 RCV000313962 RCV000354798
dbSNP Id: rs886051084
MyVariant Identifiers: chr15:g.35082191A>T (hg19) chr15:g.34789990A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34789990A>T , CM000677.2:g.34789990A>T GRCh38
NC_000015.9:g.35082191A>T , CM000677.1:g.35082191A>T GRCh37
NC_000015.8:g.32869483A>T NCBI36
NG_007553.1:g.10737T>A , LRG_388:g.10737T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000290378.4:c.*422T>A (ACTC1) ENSP00000290378.4:n.*422T>A
NM_005159.4:c.*422T>A , LRG_388t1:c.*422T>A (ACTC1) NP_005150.1:n.*422T>A
NR_120329.1:n.299+12559A>T (GJD2-DT)
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