Canonical Allele Identifier: CA019710
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 18326
dbSNP Id: rs121912676

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793431G>A , CM000677.2:g.34793431G>A GRCh38
NC_000015.9:g.35085632G>A , CM000677.1:g.35085632G>A GRCh37
NC_000015.8:g.32872924G>A NCBI36
NG_007553.1:g.7296C>T , LRG_388:g.7296C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.374C>T (ACTC1)
ENST00000290378.6:c.268C>T (ACTC1) MANE Select ENSP00000290378.4:p.His90Tyr
ENST00000647798.1:n.415C>T (ACTC1)
ENST00000648556.1:n.425C>T (ACTC1)
ENST00000650163.1:n.348C>T (ACTC1)
ENST00000290378.4:c.268C>T (ACTC1) ENSP00000290378.4:p.His90Tyr
NM_005159.4:c.268C>T , LRG_388t1:c.268C>T (ACTC1) NP_005150.1:p.His90Tyr
NR_120329.1:n.299+16000G>A (GJD2-DT)
NM_005159.5:c.268C>T (ACTC1) MANE Select NP_005150.1:p.His90Tyr