Canonical Allele Identifier: CA2169205055
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34790994C= , CM000677.2:g.34790994C= GRCh38
NC_000015.9:g.35083195C= , CM000677.1:g.35083195C= GRCh37
NC_000015.8:g.32870487C= NCBI36
NG_007553.1:g.9733G= , LRG_388:g.9733G=

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.1890+120G= (ACTC1)
ENST00000290378.6:c.990+120G= (ACTC1) MANE Select ENSP00000290378.4:n.990+120G=
ENST00000647798.1:n.1084+120G= (ACTC1)
ENST00000650163.1:n.1070+120G= (ACTC1)
ENST00000290378.4:c.990+120G= (ACTC1) ENSP00000290378.4:n.990+120G=
NM_005159.4:c.990+120G= , LRG_388t1:c.990+120G= (ACTC1) NP_005150.1:n.990+120G=
NR_120329.1:n.299+13563C= (GJD2-DT)
NM_005159.5:c.990+120G= (ACTC1) MANE Select NP_005150.1:n.990+120G=
Search 100 bp 5'
Search 100 bp 3'