Canonical Allele Identifier: CA2169207260
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34791971G= , CM000677.2:g.34791971G= GRCh38
NC_000015.9:g.35084172G= , CM000677.1:g.35084172G= GRCh37
NC_000015.8:g.32871464G= NCBI36
NG_007553.1:g.8756C= , LRG_388:g.8756C=

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.1033C= (ACTC1)
ENST00000290378.6:c.808+119C= (ACTC1) MANE Select ENSP00000290378.4:n.808+119C=
ENST00000647798.1:n.902+119C= (ACTC1)
ENST00000650163.1:n.888+119C= (ACTC1)
ENST00000290378.4:c.808+119C= (ACTC1) ENSP00000290378.4:n.808+119C=
ENST00000557860.1:n.498+119C= (ACTC1)
ENST00000560563.1:n.426C= (ACTC1)
NM_005159.4:c.808+119C= , LRG_388t1:c.808+119C= (ACTC1) NP_005150.1:n.808+119C=
NR_120329.1:n.299+14540G= (GJD2-DT)
NM_005159.5:c.808+119C= (ACTC1) MANE Select NP_005150.1:n.808+119C=
Search 100 bp 5'
Search 100 bp 3'