Canonical Allele Identifier: CA2627661824
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34790091G>T , CM000677.2:g.34790091G>T GRCh38
NC_000015.9:g.35082292G>T , CM000677.1:g.35082292G>T GRCh37
NC_000015.8:g.32869584G>T NCBI36
NG_007553.1:g.10636C>A , LRG_388:g.10636C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000290378.4:c.*321C>A (ACTC1) ENSP00000290378.4:n.*321C>A
NM_005159.4:c.*321C>A , LRG_388t1:c.*321C>A (ACTC1) NP_005150.1:n.*321C>A
NR_120329.1:n.299+12660G>T (GJD2-DT)