Canonical Allele Identifier: CA16619918
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 423456
ClinVar RCV Id: RCV000480913
dbSNP Id: rs754736799

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34790463C>A , CM000677.2:g.34790463C>A GRCh38
NC_000015.9:g.35082664C>A , CM000677.1:g.35082664C>A GRCh37
NC_000015.8:g.32869956C>A NCBI36
NG_007553.1:g.10264G>T , LRG_388:g.10264G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.1983G>T (ACTC1)
ENST00000290378.6:c.1083G>T (ACTC1) MANE Select ENSP00000290378.4:p.Lys361Asn
ENST00000647798.1:n.1177G>T (ACTC1)
ENST00000650163.1:n.1163G>T (ACTC1)
ENST00000290378.4:c.1083G>T (ACTC1) ENSP00000290378.4:p.Lys361Asn
NM_005159.4:c.1083G>T , LRG_388t1:c.1083G>T (ACTC1) NP_005150.1:p.Lys361Asn
NR_120329.1:n.299+13032C>A (GJD2-DT)
NM_005159.5:c.1083G>T (ACTC1) MANE Select NP_005150.1:p.Lys361Asn