Canonical Allele Identifier: CA019743
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 18331
dbSNP Id: rs193922680
COSMIC: COSM960888

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793398C>T , CM000677.2:g.34793398C>T GRCh38
NC_000015.9:g.35085599C>T , CM000677.1:g.35085599C>T GRCh37
NC_000015.8:g.32872891C>T NCBI36
NG_007553.1:g.7329G>A , LRG_388:g.7329G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.407G>A (ACTC1)
ENST00000290378.6:c.301G>A (ACTC1) MANE Select ENSP00000290378.4:p.Glu101Lys
ENST00000647798.1:n.448G>A (ACTC1)
ENST00000648556.1:n.458G>A (ACTC1)
ENST00000650163.1:n.381G>A (ACTC1)
ENST00000290378.4:c.301G>A (ACTC1) ENSP00000290378.4:p.Glu101Lys
NM_005159.4:c.301G>A , LRG_388t1:c.301G>A (ACTC1) NP_005150.1:p.Glu101Lys
NR_120329.1:n.299+15967C>T (GJD2-DT)
NM_005159.5:c.301G>A (ACTC1) MANE Select NP_005150.1:p.Glu101Lys