Canonical Allele Identifier: CA2169204836
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34790835C= , CM000677.2:g.34790835C= GRCh38
NC_000015.9:g.35083036C= , CM000677.1:g.35083036C= GRCh37
NC_000015.8:g.32870328C= NCBI36
NG_007553.1:g.9892G= , LRG_388:g.9892G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.1891-280G= (ACTC1)
ENST00000290378.6:c.991-280G= (ACTC1) MANE Select ENSP00000290378.4:n.991-280G=
ENST00000647798.1:n.1085-280G= (ACTC1)
ENST00000650163.1:n.1071-280G= (ACTC1)
ENST00000290378.4:c.991-280G= (ACTC1) ENSP00000290378.4:n.991-280G=
NM_005159.4:c.991-280G= , LRG_388t1:c.991-280G= (ACTC1) NP_005150.1:n.991-280G=
NR_120329.1:n.299+13404C= (GJD2-DT)
NM_005159.5:c.991-280G= (ACTC1) MANE Select NP_005150.1:n.991-280G=
Search 100 bp 5'
Search 100 bp 3'