Canonical Allele Identifier: CA391630084
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 954779
ClinVar RCV Id: RCV001227300
dbSNP Id: rs1891718487
MyVariant Identifiers: chr15:g.35084372C>G (hg19) chr15:g.34792171C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792171C>G , CM000677.2:g.34792171C>G GRCh38
NC_000015.9:g.35084372C>G , CM000677.1:g.35084372C>G GRCh37
NC_000015.8:g.32871664C>G NCBI36
NG_007553.1:g.8556G>C , LRG_388:g.8556G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.833G>C (ACTC1)
ENST00000290378.6:c.727G>C (ACTC1) MANE Select ENSP00000290378.4:p.Glu243Gln
ENST00000647798.1:n.821G>C (ACTC1)
ENST00000650163.1:n.807G>C (ACTC1)
ENST00000290378.4:c.727G>C (ACTC1) ENSP00000290378.4:p.Glu243Gln
ENST00000557860.1:n.417G>C (ACTC1)
ENST00000560563.1:n.226G>C (ACTC1)
NM_005159.4:c.727G>C , LRG_388t1:c.727G>C (ACTC1) NP_005150.1:p.Glu243Gln
NR_120329.1:n.299+14740C>G (GJD2-DT)
NM_005159.5:c.727G>C (ACTC1) MANE Select NP_005150.1:p.Glu243Gln
Search 100 bp 5'
Search 100 bp 3'