Canonical Allele Identifier: CA16607770
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 391898
ClinVar RCV Id: RCV000425543
dbSNP Id: rs1057524277
MyVariant Identifiers: chr15:g.35085469A>C (hg19) chr15:g.34793268A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793268A>C , CM000677.2:g.34793268A>C GRCh38
NC_000015.9:g.35085469A>C , CM000677.1:g.35085469A>C GRCh37
NC_000015.8:g.32872761A>C NCBI36
NG_007553.1:g.7459T>G , LRG_388:g.7459T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.537T>G (ACTC1)
ENST00000290378.6:c.431T>G (ACTC1) MANE Select ENSP00000290378.4:p.Leu144Arg
ENST00000647798.1:n.548+30T>G (ACTC1)
ENST00000648556.1:n.588T>G (ACTC1)
ENST00000650163.1:n.511T>G (ACTC1)
ENST00000290378.4:c.431T>G (ACTC1) ENSP00000290378.4:p.Leu144Arg
NM_005159.4:c.431T>G , LRG_388t1:c.431T>G (ACTC1) NP_005150.1:p.Leu144Arg
NR_120329.1:n.299+15837A>C (GJD2-DT)
NM_005159.5:c.431T>G (ACTC1) MANE Select NP_005150.1:p.Leu144Arg
Search 100 bp 5'
Search 100 bp 3'