Canonical Allele Identifier: CA041000
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 382815
ClinVar RCV Id: RCV000430493 RCV001188448 RCV002062539
dbSNP Id: rs376417852
ExAC: 15:35085785 A / C
gnomAD v2: 15-35085785-A-C
gnomAD v4: 15-34793584-A-C
MyVariant Identifiers: chr15:g.35085785A>C (hg19) chr15:g.34793584A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793584A>C , CM000677.2:g.34793584A>C GRCh38
NC_000015.9:g.35085785A>C , CM000677.1:g.35085785A>C GRCh37
NC_000015.8:g.32873077A>C NCBI36
NG_007553.1:g.7143T>G , LRG_388:g.7143T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.236-15T>G (ACTC1)
ENST00000290378.6:c.130-15T>G (ACTC1) MANE Select ENSP00000290378.4:n.130-15T>G
ENST00000647798.1:n.277-15T>G (ACTC1)
ENST00000648556.1:n.287-15T>G (ACTC1)
ENST00000650163.1:n.210-15T>G (ACTC1)
ENST00000290378.4:c.130-15T>G (ACTC1) ENSP00000290378.4:n.130-15T>G
NM_005159.4:c.130-15T>G , LRG_388t1:c.130-15T>G (ACTC1) NP_005150.1:n.130-15T>G
NR_120329.1:n.299+16153A>C (GJD2-DT)
NM_005159.5:c.130-15T>G (ACTC1) MANE Select NP_005150.1:n.130-15T>G
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