Canonical Allele Identifier: CA019752
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 45176
ClinVar RCV Id: RCV000038326
dbSNP Id: rs397517060

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793344C>G , CM000677.2:g.34793344C>G GRCh38
NC_000015.9:g.35085545C>G , CM000677.1:g.35085545C>G GRCh37
NC_000015.8:g.32872837C>G NCBI36
NG_007553.1:g.7383G>C , LRG_388:g.7383G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.461G>C (ACTC1)
ENST00000290378.6:c.355G>C (ACTC1) MANE Select ENSP00000290378.4:p.Glu119Gln
ENST00000647798.1:n.502G>C (ACTC1)
ENST00000648556.1:n.512G>C (ACTC1)
ENST00000650163.1:n.435G>C (ACTC1)
ENST00000290378.4:c.355G>C (ACTC1) ENSP00000290378.4:p.Glu119Gln
NM_005159.4:c.355G>C , LRG_388t1:c.355G>C (ACTC1) NP_005150.1:p.Glu119Gln
NR_120329.1:n.299+15913C>G (GJD2-DT)
NM_005159.5:c.355G>C (ACTC1) MANE Select NP_005150.1:p.Glu119Gln