Canonical Allele Identifier: CA2169203873
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34790382A= , CM000677.2:g.34790382A= GRCh38
NC_000015.9:g.35082583A= , CM000677.1:g.35082583A= GRCh37
NC_000015.8:g.32869875A= NCBI36
NG_007553.1:g.10345T= , LRG_388:g.10345T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.2064T= (ACTC1)
ENST00000290378.6:c.*30T= (ACTC1) MANE Select ENSP00000290378.4:n.*30T=
ENST00000647798.1:n.1258T= (ACTC1)
ENST00000650163.1:n.1244T= (ACTC1)
ENST00000290378.4:c.*30T= (ACTC1) ENSP00000290378.4:n.*30T=
NM_005159.4:c.*30T= , LRG_388t1:c.*30T= (ACTC1) NP_005150.1:n.*30T=
NR_120329.1:n.299+12951A= (GJD2-DT)
NM_005159.5:c.*30T= (ACTC1) MANE Select NP_005150.1:n.*30T=
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Search 100 bp 3'