Canonical Allele Identifier: CA489655849
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 1171873
ClinVar RCV Id: RCV001525301 RCV003771600 RCV004008833
dbSNP Id: rs1393400015
COSMIC: COSM1517079
MyVariant Identifiers: chr15:g.35085666G>A (hg19) chr15:g.34793465G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793465G>A , CM000677.2:g.34793465G>A GRCh38
NC_000015.9:g.35085666G>A , CM000677.1:g.35085666G>A GRCh37
NC_000015.8:g.32872958G>A NCBI36
NG_007553.1:g.7262C>T , LRG_388:g.7262C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.340C>T (ACTC1)
ENST00000290378.6:c.234C>T (ACTC1) MANE Select ENSP00000290378.4:p.Ile78=
ENST00000647798.1:n.381C>T (ACTC1)
ENST00000648556.1:n.391C>T (ACTC1)
ENST00000650163.1:n.314C>T (ACTC1)
ENST00000290378.4:c.234C>T (ACTC1) ENSP00000290378.4:p.Ile78=
NM_005159.4:c.234C>T , LRG_388t1:c.234C>T (ACTC1) NP_005150.1:p.Ile78=
NR_120329.1:n.299+16034G>A (GJD2-DT)
NM_005159.5:c.234C>T (ACTC1) MANE Select NP_005150.1:p.Ile78=
Search 100 bp 5'
Search 100 bp 3'