Canonical Allele Identifier: CA489418874
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 921380
ClinVar RCV Id: RCV001180738 RCV001310743
dbSNP Id: rs863225303
gnomAD v4: 15-34791210-G-A
MyVariant Identifiers: chr15:g.35083411G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34791210G>A , CM000677.2:g.34791210G>A GRCh38
NC_000015.9:g.35083411G>A , CM000677.1:g.35083411G>A GRCh37
NC_000015.8:g.32870703G>A NCBI36
NG_007553.1:g.9517C>T , LRG_388:g.9517C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.1794C>T (ACTC1)
ENST00000290378.6:c.894C>T (ACTC1) MANE Select ENSP00000290378.4:p.Asn298=
ENST00000647798.1:n.988C>T (ACTC1)
ENST00000650163.1:n.974C>T (ACTC1)
ENST00000290378.4:c.894C>T (ACTC1) ENSP00000290378.4:p.Asn298=
ENST00000557860.1:n.584C>T (ACTC1)
NM_005159.4:c.894C>T , LRG_388t1:c.894C>T (ACTC1) NP_005150.1:p.Asn298=
NR_120329.1:n.299+13779G>A (GJD2-DT)
NM_005159.5:c.894C>T (ACTC1) MANE Select NP_005150.1:p.Asn298=
Search 100 bp 5'
Search 100 bp 3'