Canonical Allele Identifier: CA391631559
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 1719755
ClinVar RCV Id: RCV002303950
COSMIC: COSM960889
MyVariant Identifiers: chr15:g.35085610C>T (hg19) chr15:g.34793409C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793409C>T , CM000677.2:g.34793409C>T GRCh38
NC_000015.9:g.35085610C>T , CM000677.1:g.35085610C>T GRCh37
NC_000015.8:g.32872902C>T NCBI36
NG_007553.1:g.7318G>A , LRG_388:g.7318G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.396G>A (ACTC1)
ENST00000290378.6:c.290G>A (ACTC1) MANE Select ENSP00000290378.4:p.Arg97His
ENST00000647798.1:n.437G>A (ACTC1)
ENST00000648556.1:n.447G>A (ACTC1)
ENST00000650163.1:n.370G>A (ACTC1)
ENST00000290378.4:c.290G>A (ACTC1) ENSP00000290378.4:p.Arg97His
NM_005159.4:c.290G>A , LRG_388t1:c.290G>A (ACTC1) NP_005150.1:p.Arg97His
NR_120329.1:n.299+15978C>T (GJD2-DT)
NM_005159.5:c.290G>A (ACTC1) MANE Select NP_005150.1:p.Arg97His
Search 100 bp 5'
Search 100 bp 3'