Canonical Allele Identifier: CA489655512
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 1133057
ClinVar RCV Id: RCV001467493
dbSNP Id: rs1306504752
gnomAD v4: 15-34792523-G-A
MyVariant Identifiers: chr15:g.35084724G>A (hg19) chr15:g.34792523G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792523G>A , CM000677.2:g.34792523G>A GRCh38
NC_000015.9:g.35084724G>A , CM000677.1:g.35084724G>A GRCh37
NC_000015.8:g.32872016G>A NCBI36
NG_007553.1:g.8204C>T , LRG_388:g.8204C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.607C>T (ACTC1)
ENST00000290378.6:c.501C>T (ACTC1) MANE Select ENSP00000290378.4:p.Ile167=
ENST00000647798.1:n.595C>T (ACTC1)
ENST00000648556.1:n.658C>T (ACTC1)
ENST00000650163.1:n.581C>T (ACTC1)
ENST00000290378.4:c.501C>T (ACTC1) ENSP00000290378.4:p.Ile167=
ENST00000557860.1:n.191C>T (ACTC1)
NM_005159.4:c.501C>T , LRG_388t1:c.501C>T (ACTC1) NP_005150.1:p.Ile167=
NR_120329.1:n.299+15092G>A (GJD2-DT)
NM_005159.5:c.501C>T (ACTC1) MANE Select NP_005150.1:p.Ile167=
Search 100 bp 5'
Search 100 bp 3'