Canonical Allele Identifier: CA2169208646
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792528G= , CM000677.2:g.34792528G= GRCh38
NC_000015.9:g.35084729G= , CM000677.1:g.35084729G= GRCh37
NC_000015.8:g.32872021G= NCBI36
NG_007553.1:g.8199C= , LRG_388:g.8199C=

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.602C= (ACTC1)
ENST00000290378.6:c.496C= (ACTC1) MANE Select ENSP00000290378.4:p.Pro166=
ENST00000647798.1:n.590C= (ACTC1)
ENST00000648556.1:n.653C= (ACTC1)
ENST00000650163.1:n.576C= (ACTC1)
ENST00000290378.4:c.496C= (ACTC1) ENSP00000290378.4:p.Pro166=
ENST00000557860.1:n.186C= (ACTC1)
NM_005159.4:c.496C= , LRG_388t1:c.496C= (ACTC1) NP_005150.1:p.Pro166=
NR_120329.1:n.299+15097G= (GJD2-DT)
NM_005159.5:c.496C= (ACTC1) MANE Select NP_005150.1:p.Pro166=