Canonical Allele Identifier: CA2169212943
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34794758C= , CM000677.2:g.34794758C= GRCh38
NC_000015.9:g.35086959C= , CM000677.1:g.35086959C= GRCh37
NC_000015.8:g.32874251C= NCBI36
NG_007553.1:g.5969G= , LRG_388:g.5969G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.157G= (ACTC1)
ENST00000290378.6:c.51G= (ACTC1) MANE Select ENSP00000290378.4:p.Gly17=
ENST00000290378.4:c.51G= (ACTC1) ENSP00000290378.4:p.Gly17=
NM_005159.4:c.51G= , LRG_388t1:c.51G= (ACTC1) NP_005150.1:p.Gly17=
NR_120329.1:n.300-15738C= (GJD2-DT)
NM_005159.5:c.51G= (ACTC1) MANE Select NP_005150.1:p.Gly17=