Canonical Allele Identifier: CA2169210492
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793418T= , CM000677.2:g.34793418T= GRCh38
NC_000015.9:g.35085619T= , CM000677.1:g.35085619T= GRCh37
NC_000015.8:g.32872911T= NCBI36
NG_007553.1:g.7309A= , LRG_388:g.7309A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.387A= (ACTC1)
ENST00000290378.6:c.281A= (ACTC1) MANE Select ENSP00000290378.4:p.Asn94=
ENST00000647798.1:n.428A= (ACTC1)
ENST00000648556.1:n.438A= (ACTC1)
ENST00000650163.1:n.361A= (ACTC1)
ENST00000290378.4:c.281A= (ACTC1) ENSP00000290378.4:p.Asn94=
NM_005159.4:c.281A= , LRG_388t1:c.281A= (ACTC1) NP_005150.1:p.Asn94=
NR_120329.1:n.299+15987T= (GJD2-DT)
NM_005159.5:c.281A= (ACTC1) MANE Select NP_005150.1:p.Asn94=