Canonical Allele Identifier: CA2169208135
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792308A= , CM000677.2:g.34792308A= GRCh38
NC_000015.9:g.35084509A= , CM000677.1:g.35084509A= GRCh37
NC_000015.8:g.32871801A= NCBI36
NG_007553.1:g.8419T= , LRG_388:g.8419T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.723-27T= (ACTC1)
ENST00000290378.6:c.617-27T= (ACTC1) MANE Select ENSP00000290378.4:n.617-27T=
ENST00000647798.1:n.711-27T= (ACTC1)
ENST00000648556.1:n.774-27T= (ACTC1)
ENST00000650163.1:n.697-27T= (ACTC1)
ENST00000290378.4:c.617-27T= (ACTC1) ENSP00000290378.4:n.617-27T=
ENST00000557860.1:n.307-27T= (ACTC1)
ENST00000560563.1:n.116-27T= (ACTC1)
NM_005159.4:c.617-27T= , LRG_388t1:c.617-27T= (ACTC1) NP_005150.1:n.617-27T=
NR_120329.1:n.299+14877A= (GJD2-DT)
NM_005159.5:c.617-27T= (ACTC1) MANE Select NP_005150.1:n.617-27T=
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