Canonical Allele Identifier: CA391631275
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793282C>A , CM000677.2:g.34793282C>A GRCh38
NC_000015.9:g.35085483C>A , CM000677.1:g.35085483C>A GRCh37
NC_000015.8:g.32872775C>A NCBI36
NG_007553.1:g.7445G>T , LRG_388:g.7445G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.523G>T (ACTC1)
ENST00000290378.6:c.417G>T (ACTC1) MANE Select ENSP00000290378.4:p.Gln139His
ENST00000647798.1:n.548+16G>T (ACTC1)
ENST00000648556.1:n.574G>T (ACTC1)
ENST00000650163.1:n.497G>T (ACTC1)
ENST00000290378.4:c.417G>T (ACTC1) ENSP00000290378.4:p.Gln139His
NM_005159.4:c.417G>T , LRG_388t1:c.417G>T (ACTC1) NP_005150.1:p.Gln139His
NR_120329.1:n.299+15851C>A (GJD2-DT)
NM_005159.5:c.417G>T (ACTC1) MANE Select NP_005150.1:p.Gln139His