Canonical Allele Identifier: CA712278282
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1481440082
MyVariant Identifiers: chr15:g.35082606A>C (hg19) chr15:g.34790405A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34790405A>C , CM000677.2:g.34790405A>C GRCh38
NC_000015.9:g.35082606A>C , CM000677.1:g.35082606A>C GRCh37
NC_000015.8:g.32869898A>C NCBI36
NG_007553.1:g.10322T>G , LRG_388:g.10322T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.2041T>G (ACTC1)
ENST00000290378.6:c.*7T>G (ACTC1) MANE Select ENSP00000290378.4:n.*7T>G
ENST00000647798.1:n.1235T>G (ACTC1)
ENST00000650163.1:n.1221T>G (ACTC1)
ENST00000290378.4:c.*7T>G (ACTC1) ENSP00000290378.4:n.*7T>G
NM_005159.4:c.*7T>G , LRG_388t1:c.*7T>G (ACTC1) NP_005150.1:n.*7T>G
NR_120329.1:n.299+12974A>C (GJD2-DT)
NM_005159.5:c.*7T>G (ACTC1) MANE Select NP_005150.1:n.*7T>G
Search 100 bp 5'
Search 100 bp 3'