Canonical Allele Identifier: CA2169203197
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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