Canonical Allele Identifier: CA1139663830
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 928079
ClinVar RCV Id: RCV001191732
dbSNP Id: rs1891753477
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793582A>T , CM000677.2:g.34793582A>T GRCh38
NC_000015.9:g.35085783A>T , CM000677.1:g.35085783A>T GRCh37
NC_000015.8:g.32873075A>T NCBI36
NG_007553.1:g.7145T>A , LRG_388:g.7145T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.236-13T>A (ACTC1)
ENST00000290378.6:c.130-13T>A (ACTC1) MANE Select ENSP00000290378.4:n.130-13T>A
ENST00000647798.1:n.277-13T>A (ACTC1)
ENST00000648556.1:n.287-13T>A (ACTC1)
ENST00000650163.1:n.210-13T>A (ACTC1)
ENST00000290378.4:c.130-13T>A (ACTC1) ENSP00000290378.4:n.130-13T>A
NM_005159.4:c.130-13T>A , LRG_388t1:c.130-13T>A (ACTC1) NP_005150.1:n.130-13T>A
NR_120329.1:n.299+16151A>T (GJD2-DT)
NM_005159.5:c.130-13T>A (ACTC1) MANE Select NP_005150.1:n.130-13T>A
Search 100 bp 5'
Search 100 bp 3'