Canonical Allele Identifier: CA391631257
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793272A>T , CM000677.2:g.34793272A>T GRCh38
NC_000015.9:g.35085473A>T , CM000677.1:g.35085473A>T GRCh37
NC_000015.8:g.32872765A>T NCBI36
NG_007553.1:g.7455T>A , LRG_388:g.7455T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.533T>A (ACTC1)
ENST00000290378.6:c.427T>A (ACTC1) MANE Select ENSP00000290378.4:p.Ser143Thr
ENST00000647798.1:n.548+26T>A (ACTC1)
ENST00000648556.1:n.584T>A (ACTC1)
ENST00000650163.1:n.507T>A (ACTC1)
ENST00000290378.4:c.427T>A (ACTC1) ENSP00000290378.4:p.Ser143Thr
NM_005159.4:c.427T>A , LRG_388t1:c.427T>A (ACTC1) NP_005150.1:p.Ser143Thr
NR_120329.1:n.299+15841A>T (GJD2-DT)
NM_005159.5:c.427T>A (ACTC1) MANE Select NP_005150.1:p.Ser143Thr