Canonical Allele Identifier: CA391628695
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 1511714
ClinVar RCV Id: RCV002020550
dbSNP Id: rs2140428952

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34790453C>A , CM000677.2:g.34790453C>A GRCh38
NC_000015.9:g.35082654C>A , CM000677.1:g.35082654C>A GRCh37
NC_000015.8:g.32869946C>A NCBI36
NG_007553.1:g.10274G>T , LRG_388:g.10274G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.1993G>T (ACTC1)
ENST00000290378.6:c.1093G>T (ACTC1) MANE Select ENSP00000290378.4:p.Asp365Tyr
ENST00000647798.1:n.1187G>T (ACTC1)
ENST00000650163.1:n.1173G>T (ACTC1)
ENST00000290378.4:c.1093G>T (ACTC1) ENSP00000290378.4:p.Asp365Tyr
NM_005159.4:c.1093G>T , LRG_388t1:c.1093G>T (ACTC1) NP_005150.1:p.Asp365Tyr
NR_120329.1:n.299+13022C>A (GJD2-DT)
NM_005159.5:c.1093G>T (ACTC1) MANE Select NP_005150.1:p.Asp365Tyr