Canonical Allele Identifier: CA2169203837
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34790372C= , CM000677.2:g.34790372C= GRCh38
NC_000015.9:g.35082573C= , CM000677.1:g.35082573C= GRCh37
NC_000015.8:g.32869865C= NCBI36
NG_007553.1:g.10355G= , LRG_388:g.10355G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.2074G= (ACTC1)
ENST00000290378.6:c.*40G= (ACTC1) MANE Select ENSP00000290378.4:n.*40G=
ENST00000647798.1:n.1268G= (ACTC1)
ENST00000650163.1:n.1254G= (ACTC1)
ENST00000290378.4:c.*40G= (ACTC1) ENSP00000290378.4:n.*40G=
NM_005159.4:c.*40G= , LRG_388t1:c.*40G= (ACTC1) NP_005150.1:n.*40G=
NR_120329.1:n.299+12941C= (GJD2-DT)
NM_005159.5:c.*40G= (ACTC1) MANE Select NP_005150.1:n.*40G=
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