Canonical Allele Identifier: CA391629356
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 2921885
ClinVar RCV Id: RCV003782907
MyVariant Identifiers: chr15:g.35083355T>C (hg19) chr15:g.34791154T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34791154T>C , CM000677.2:g.34791154T>C GRCh38
NC_000015.9:g.35083355T>C , CM000677.1:g.35083355T>C GRCh37
NC_000015.8:g.32870647T>C NCBI36
NG_007553.1:g.9573A>G , LRG_388:g.9573A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.1850A>G (ACTC1)
ENST00000290378.6:c.950A>G (ACTC1) MANE Select ENSP00000290378.4:p.Lys317Arg
ENST00000647798.1:n.1044A>G (ACTC1)
ENST00000650163.1:n.1030A>G (ACTC1)
ENST00000290378.4:c.950A>G (ACTC1) ENSP00000290378.4:p.Lys317Arg
NM_005159.4:c.950A>G , LRG_388t1:c.950A>G (ACTC1) NP_005150.1:p.Lys317Arg
NR_120329.1:n.299+13723T>C (GJD2-DT)
NM_005159.5:c.950A>G (ACTC1) MANE Select NP_005150.1:p.Lys317Arg
Search 100 bp 5'
Search 100 bp 3'