Canonical Allele Identifier: CA489655659
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.35085480T>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793279T>A , CM000677.2:g.34793279T>A GRCh38
NC_000015.9:g.35085480T>A , CM000677.1:g.35085480T>A GRCh37
NC_000015.8:g.32872772T>A NCBI36
NG_007553.1:g.7448A>T , LRG_388:g.7448A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.526A>T (ACTC1)
ENST00000290378.6:c.420A>T (ACTC1) MANE Select ENSP00000290378.4:p.Ala140=
ENST00000647798.1:n.548+19A>T (ACTC1)
ENST00000648556.1:n.577A>T (ACTC1)
ENST00000650163.1:n.500A>T (ACTC1)
ENST00000290378.4:c.420A>T (ACTC1) ENSP00000290378.4:p.Ala140=
NM_005159.4:c.420A>T , LRG_388t1:c.420A>T (ACTC1) NP_005150.1:p.Ala140=
NR_120329.1:n.299+15848T>A (GJD2-DT)
NM_005159.5:c.420A>T (ACTC1) MANE Select NP_005150.1:p.Ala140=
Search 100 bp 5'
Search 100 bp 3'