Canonical Allele Identifier: CA16606657
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 379262
ClinVar RCV Id: RCV000444833
dbSNP Id: rs1057520547
MyVariant Identifiers: chr15:g.35083351T>G (hg19) chr15:g.34791150T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34791150T>G , CM000677.2:g.34791150T>G GRCh38
NC_000015.9:g.35083351T>G , CM000677.1:g.35083351T>G GRCh37
NC_000015.8:g.32870643T>G NCBI36
NG_007553.1:g.9577A>C , LRG_388:g.9577A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.1854A>C (ACTC1)
ENST00000290378.6:c.954A>C (ACTC1) MANE Select ENSP00000290378.4:p.Glu318Asp
ENST00000647798.1:n.1048A>C (ACTC1)
ENST00000650163.1:n.1034A>C (ACTC1)
ENST00000290378.4:c.954A>C (ACTC1) ENSP00000290378.4:p.Glu318Asp
NM_005159.4:c.954A>C , LRG_388t1:c.954A>C (ACTC1) NP_005150.1:p.Glu318Asp
NR_120329.1:n.299+13719T>G (GJD2-DT)
NM_005159.5:c.954A>C (ACTC1) MANE Select NP_005150.1:p.Glu318Asp
Search 100 bp 5'
Search 100 bp 3'