Canonical Allele Identifier: CA489419625
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 1171324
ClinVar RCV Id: RCV001524311
dbSNP Id: rs1891717558
gnomAD v4: 15-34792133-C-T
MyVariant Identifiers: chr15:g.35084334C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792133C>T , CM000677.2:g.34792133C>T GRCh38
NC_000015.9:g.35084334C>T , CM000677.1:g.35084334C>T GRCh37
NC_000015.8:g.32871626C>T NCBI36
NG_007553.1:g.8594G>A , LRG_388:g.8594G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.871G>A (ACTC1)
ENST00000290378.6:c.765G>A (ACTC1) MANE Select ENSP00000290378.4:p.Glu255=
ENST00000647798.1:n.859G>A (ACTC1)
ENST00000650163.1:n.845G>A (ACTC1)
ENST00000290378.4:c.765G>A (ACTC1) ENSP00000290378.4:p.Glu255=
ENST00000557860.1:n.455G>A (ACTC1)
ENST00000560563.1:n.264G>A (ACTC1)
NM_005159.4:c.765G>A , LRG_388t1:c.765G>A (ACTC1) NP_005150.1:p.Glu255=
NR_120329.1:n.299+14702C>T (GJD2-DT)
NM_005159.5:c.765G>A (ACTC1) MANE Select NP_005150.1:p.Glu255=
Search 100 bp 5'
Search 100 bp 3'