Canonical Allele Identifier: CA019865
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 45186
ClinVar RCV Id: RCV000038336 RCV001057276 RCV001552724 RCV001331367 RCV004018869
dbSNP Id: rs397517067
MyVariant Identifiers: chr15:g.35084464C>T (hg19) chr15:g.34792263C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792263C>T , CM000677.2:g.34792263C>T GRCh38
NC_000015.9:g.35084464C>T , CM000677.1:g.35084464C>T GRCh37
NC_000015.8:g.32871756C>T NCBI36
NG_007553.1:g.8464G>A , LRG_388:g.8464G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.741G>A (ACTC1)
ENST00000290378.6:c.635G>A (ACTC1) MANE Select ENSP00000290378.4:p.Arg212His
ENST00000647798.1:n.729G>A (ACTC1)
ENST00000648556.1:n.792G>A (ACTC1)
ENST00000650163.1:n.715G>A (ACTC1)
ENST00000290378.4:c.635G>A (ACTC1) ENSP00000290378.4:p.Arg212His
ENST00000557860.1:n.325G>A (ACTC1)
ENST00000560563.1:n.134G>A (ACTC1)
NM_005159.4:c.635G>A , LRG_388t1:c.635G>A (ACTC1) NP_005150.1:p.Arg212His
NR_120329.1:n.299+14832C>T (GJD2-DT)
NM_005159.5:c.635G>A (ACTC1) MANE Select NP_005150.1:p.Arg212His
Search 100 bp 5'
Search 100 bp 3'