Canonical Allele Identifier: CA2169210080
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793268A= , CM000677.2:g.34793268A= GRCh38
NC_000015.9:g.35085469A= , CM000677.1:g.35085469A= GRCh37
NC_000015.8:g.32872761A= NCBI36
NG_007553.1:g.7459T= , LRG_388:g.7459T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.537T= (ACTC1)
ENST00000290378.6:c.431T= (ACTC1) MANE Select ENSP00000290378.4:p.Leu144=
ENST00000647798.1:n.548+30T= (ACTC1)
ENST00000648556.1:n.588T= (ACTC1)
ENST00000650163.1:n.511T= (ACTC1)
ENST00000290378.4:c.431T= (ACTC1) ENSP00000290378.4:p.Leu144=
NM_005159.4:c.431T= , LRG_388t1:c.431T= (ACTC1) NP_005150.1:p.Leu144=
NR_120329.1:n.299+15837A= (GJD2-DT)
NM_005159.5:c.431T= (ACTC1) MANE Select NP_005150.1:p.Leu144=