Canonical Allele Identifier: CA617196680
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1420479169

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34790095T>C , CM000677.2:g.34790095T>C GRCh38
NC_000015.9:g.35082296T>C , CM000677.1:g.35082296T>C GRCh37
NC_000015.8:g.32869588T>C NCBI36
NG_007553.1:g.10632A>G , LRG_388:g.10632A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000290378.4:c.*317A>G (ACTC1) ENSP00000290378.4:n.*317A>G
NM_005159.4:c.*317A>G , LRG_388t1:c.*317A>G (ACTC1) NP_005150.1:n.*317A>G
NR_120329.1:n.299+12664T>C (GJD2-DT)