Canonical Allele Identifier: CA042059
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 315711
ClinVar RCV Id: RCV001187915 RCV001597075 RCV002348054
dbSNP Id: rs750131288
ExAC: 15:35084688 A / T
gnomAD v2: 15-35084688-A-T
gnomAD v3: 15-34792487-A-T
gnomAD v4: 15-34792487-A-T
MyVariant Identifiers: chr15:g.35084688A>T (hg19) chr15:g.34792487A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792487A>T , CM000677.2:g.34792487A>T GRCh38
NC_000015.9:g.35084688A>T , CM000677.1:g.35084688A>T GRCh37
NC_000015.8:g.32871980A>T NCBI36
NG_007553.1:g.8240T>A , LRG_388:g.8240T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.643T>A (ACTC1)
ENST00000290378.6:c.537T>A (ACTC1) MANE Select ENSP00000290378.4:p.Arg179=
ENST00000647798.1:n.631T>A (ACTC1)
ENST00000648556.1:n.694T>A (ACTC1)
ENST00000650163.1:n.617T>A (ACTC1)
ENST00000290378.4:c.537T>A (ACTC1) ENSP00000290378.4:p.Arg179=
ENST00000557860.1:n.227T>A (ACTC1)
ENST00000560563.1:n.36T>A (ACTC1)
NM_005159.4:c.537T>A , LRG_388t1:c.537T>A (ACTC1) NP_005150.1:p.Arg179=
NR_120329.1:n.299+15056A>T (GJD2-DT)
NM_005159.5:c.537T>A (ACTC1) MANE Select NP_005150.1:p.Arg179=
Search 100 bp 5'
Search 100 bp 3'