Canonical Allele Identifier: CA2169203375
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34790173C= , CM000677.2:g.34790173C= GRCh38
NC_000015.9:g.35082374C= , CM000677.1:g.35082374C= GRCh37
NC_000015.8:g.32869666C= NCBI36
NG_007553.1:g.10554G= , LRG_388:g.10554G=

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.2273G= (ACTC1)
ENST00000290378.4:c.*239G= (ACTC1) ENSP00000290378.4:n.*239G=
NM_005159.4:c.*239G= , LRG_388t1:c.*239G= (ACTC1) NP_005150.1:n.*239G=
NR_120329.1:n.299+12742C= (GJD2-DT)
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