Canonical Allele Identifier: CA2169207366
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792045A= , CM000677.2:g.34792045A= GRCh38
NC_000015.9:g.35084246A= , CM000677.1:g.35084246A= GRCh37
NC_000015.8:g.32871538A= NCBI36
NG_007553.1:g.8682T= , LRG_388:g.8682T=

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.959T= (ACTC1)
ENST00000290378.6:c.808+45T= (ACTC1) MANE Select ENSP00000290378.4:n.808+45T=
ENST00000647798.1:n.902+45T= (ACTC1)
ENST00000650163.1:n.888+45T= (ACTC1)
ENST00000290378.4:c.808+45T= (ACTC1) ENSP00000290378.4:n.808+45T=
ENST00000557860.1:n.498+45T= (ACTC1)
ENST00000560563.1:n.352T= (ACTC1)
NM_005159.4:c.808+45T= , LRG_388t1:c.808+45T= (ACTC1) NP_005150.1:n.808+45T=
NR_120329.1:n.299+14614A= (GJD2-DT)
NM_005159.5:c.808+45T= (ACTC1) MANE Select NP_005150.1:n.808+45T=