Canonical Allele Identifier: CA489419726
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 1952355
ClinVar RCV Id: RCV002676912
dbSNP Id: rs1595760743
MyVariant Identifiers: chr15:g.35084355T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792154T>C , CM000677.2:g.34792154T>C GRCh38
NC_000015.9:g.35084355T>C , CM000677.1:g.35084355T>C GRCh37
NC_000015.8:g.32871647T>C NCBI36
NG_007553.1:g.8573A>G , LRG_388:g.8573A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.850A>G (ACTC1)
ENST00000290378.6:c.744A>G (ACTC1) MANE Select ENSP00000290378.4:p.Gln248=
ENST00000647798.1:n.838A>G (ACTC1)
ENST00000650163.1:n.824A>G (ACTC1)
ENST00000290378.4:c.744A>G (ACTC1) ENSP00000290378.4:p.Gln248=
ENST00000557860.1:n.434A>G (ACTC1)
ENST00000560563.1:n.243A>G (ACTC1)
NM_005159.4:c.744A>G , LRG_388t1:c.744A>G (ACTC1) NP_005150.1:p.Gln248=
NR_120329.1:n.299+14723T>C (GJD2-DT)
NM_005159.5:c.744A>G (ACTC1) MANE Select NP_005150.1:p.Gln248=
Search 100 bp 5'
Search 100 bp 3'