Canonical Allele Identifier: CA2169212442
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34794596C= , CM000677.2:g.34794596C= GRCh38
NC_000015.9:g.35086797C= , CM000677.1:g.35086797C= GRCh37
NC_000015.8:g.32874089C= NCBI36
NG_007553.1:g.6131G= , LRG_388:g.6131G=

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.235+84G= (ACTC1)
ENST00000290378.6:c.129+84G= (ACTC1) MANE Select ENSP00000290378.4:n.129+84G=
ENST00000290378.4:c.129+84G= (ACTC1) ENSP00000290378.4:n.129+84G=
NM_005159.4:c.129+84G= , LRG_388t1:c.129+84G= (ACTC1) NP_005150.1:n.129+84G=
NR_120329.1:n.300-15900C= (GJD2-DT)
NM_005159.5:c.129+84G= (ACTC1) MANE Select NP_005150.1:n.129+84G=
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