Canonical Allele Identifier: CA391631261
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 1720738
ClinVar RCV Id: RCV002300015
MyVariant Identifiers: chr15:g.35085476G>C (hg19) chr15:g.34793275G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793275G>C , CM000677.2:g.34793275G>C GRCh38
NC_000015.9:g.35085476G>C , CM000677.1:g.35085476G>C GRCh37
NC_000015.8:g.32872768G>C NCBI36
NG_007553.1:g.7452C>G , LRG_388:g.7452C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.530C>G (ACTC1)
ENST00000290378.6:c.424C>G (ACTC1) MANE Select ENSP00000290378.4:p.Leu142Val
ENST00000647798.1:n.548+23C>G (ACTC1)
ENST00000648556.1:n.581C>G (ACTC1)
ENST00000650163.1:n.504C>G (ACTC1)
ENST00000290378.4:c.424C>G (ACTC1) ENSP00000290378.4:p.Leu142Val
NM_005159.4:c.424C>G , LRG_388t1:c.424C>G (ACTC1) NP_005150.1:p.Leu142Val
NR_120329.1:n.299+15844G>C (GJD2-DT)
NM_005159.5:c.424C>G (ACTC1) MANE Select NP_005150.1:p.Leu142Val
Search 100 bp 5'
Search 100 bp 3'