Canonical Allele Identifier: CA489655447
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 2774924
ClinVar RCV Id: RCV003533577 RCV003779348
dbSNP Id: rs1161290776
gnomAD v2: 15-35084670-C-T
gnomAD v3: 15-34792469-C-T
gnomAD v4: 15-34792469-C-T
MyVariant Identifiers: chr15:g.35084670C>T (hg19) chr15:g.34792469C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792469C>T , CM000677.2:g.34792469C>T GRCh38
NC_000015.9:g.35084670C>T , CM000677.1:g.35084670C>T GRCh37
NC_000015.8:g.32871962C>T NCBI36
NG_007553.1:g.8258G>A , LRG_388:g.8258G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.661G>A (ACTC1)
ENST00000290378.6:c.555G>A (ACTC1) MANE Select ENSP00000290378.4:p.Arg185=
ENST00000647798.1:n.649G>A (ACTC1)
ENST00000648556.1:n.712G>A (ACTC1)
ENST00000650163.1:n.635G>A (ACTC1)
ENST00000290378.4:c.555G>A (ACTC1) ENSP00000290378.4:p.Arg185=
ENST00000557860.1:n.245G>A (ACTC1)
ENST00000560563.1:n.54G>A (ACTC1)
NM_005159.4:c.555G>A , LRG_388t1:c.555G>A (ACTC1) NP_005150.1:p.Arg185=
NR_120329.1:n.299+15038C>T (GJD2-DT)
NM_005159.5:c.555G>A (ACTC1) MANE Select NP_005150.1:p.Arg185=
Search 100 bp 5'
Search 100 bp 3'