Canonical Allele Identifier: CA391628804
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 656273
ClinVar RCV Id: RCV000812657
dbSNP Id: rs1595759946

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34790465T>C , CM000677.2:g.34790465T>C GRCh38
NC_000015.9:g.35082666T>C , CM000677.1:g.35082666T>C GRCh37
NC_000015.8:g.32869958T>C NCBI36
NG_007553.1:g.10262A>G , LRG_388:g.10262A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.1981A>G (ACTC1)
ENST00000290378.6:c.1081A>G (ACTC1) MANE Select ENSP00000290378.4:p.Lys361Glu
ENST00000647798.1:n.1175A>G (ACTC1)
ENST00000650163.1:n.1161A>G (ACTC1)
ENST00000290378.4:c.1081A>G (ACTC1) ENSP00000290378.4:p.Lys361Glu
NM_005159.4:c.1081A>G , LRG_388t1:c.1081A>G (ACTC1) NP_005150.1:p.Lys361Glu
NR_120329.1:n.299+13034T>C (GJD2-DT)
NM_005159.5:c.1081A>G (ACTC1) MANE Select NP_005150.1:p.Lys361Glu