Canonical Allele Identifier: CA391631025
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 517203
ClinVar RCV Id: RCV000609399 RCV001302582 RCV002343165 RCV004002623
dbSNP Id: rs1555418829
gnomAD v4: 15-34792492-T-A
MyVariant Identifiers: chr15:g.35084693T>A (hg19) chr15:g.34792492T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792492T>A , CM000677.2:g.34792492T>A GRCh38
NC_000015.9:g.35084693T>A , CM000677.1:g.35084693T>A GRCh37
NC_000015.8:g.32871985T>A NCBI36
NG_007553.1:g.8235A>T , LRG_388:g.8235A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.638A>T (ACTC1)
ENST00000290378.6:c.532A>T (ACTC1) MANE Select ENSP00000290378.4:p.Met178Leu
ENST00000647798.1:n.626A>T (ACTC1)
ENST00000648556.1:n.689A>T (ACTC1)
ENST00000650163.1:n.612A>T (ACTC1)
ENST00000290378.4:c.532A>T (ACTC1) ENSP00000290378.4:p.Met178Leu
ENST00000557860.1:n.222A>T (ACTC1)
ENST00000560563.1:n.31A>T (ACTC1)
NM_005159.4:c.532A>T , LRG_388t1:c.532A>T (ACTC1) NP_005150.1:p.Met178Leu
NR_120329.1:n.299+15061T>A (GJD2-DT)
NM_005159.5:c.532A>T (ACTC1) MANE Select NP_005150.1:p.Met178Leu
Search 100 bp 5'
Search 100 bp 3'