Canonical Allele Identifier: CA2169207266
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34791984T= , CM000677.2:g.34791984T= GRCh38
NC_000015.9:g.35084185T= , CM000677.1:g.35084185T= GRCh37
NC_000015.8:g.32871477T= NCBI36
NG_007553.1:g.8743A= , LRG_388:g.8743A=

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.1020A= (ACTC1)
ENST00000290378.6:c.808+106A= (ACTC1) MANE Select ENSP00000290378.4:n.808+106A=
ENST00000647798.1:n.902+106A= (ACTC1)
ENST00000650163.1:n.888+106A= (ACTC1)
ENST00000290378.4:c.808+106A= (ACTC1) ENSP00000290378.4:n.808+106A=
ENST00000557860.1:n.498+106A= (ACTC1)
ENST00000560563.1:n.413A= (ACTC1)
NM_005159.4:c.808+106A= , LRG_388t1:c.808+106A= (ACTC1) NP_005150.1:n.808+106A=
NR_120329.1:n.299+14553T= (GJD2-DT)
NM_005159.5:c.808+106A= (ACTC1) MANE Select NP_005150.1:n.808+106A=
Search 100 bp 5'
Search 100 bp 3'