Canonical Allele Identifier: CA019773
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 177944
ClinVar RCV Id: RCV000154605
dbSNP Id: rs727504415
MyVariant Identifiers: chr15:g.35082610A>G (hg19) chr15:g.34790409A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34790409A>G , CM000677.2:g.34790409A>G GRCh38
NC_000015.9:g.35082610A>G , CM000677.1:g.35082610A>G GRCh37
NC_000015.8:g.32869902A>G NCBI36
NG_007553.1:g.10318T>C , LRG_388:g.10318T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.2037T>C (ACTC1)
ENST00000290378.6:c.*3T>C (ACTC1) MANE Select ENSP00000290378.4:n.*3T>C
ENST00000647798.1:n.1231T>C (ACTC1)
ENST00000650163.1:n.1217T>C (ACTC1)
ENST00000290378.4:c.*3T>C (ACTC1) ENSP00000290378.4:n.*3T>C
NM_005159.4:c.*3T>C , LRG_388t1:c.*3T>C (ACTC1) NP_005150.1:n.*3T>C
NR_120329.1:n.299+12978A>G (GJD2-DT)
NM_005159.5:c.*3T>C (ACTC1) MANE Select NP_005150.1:n.*3T>C
Search 100 bp 5'
Search 100 bp 3'