Canonical Allele Identifier: CA489655806
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs2140432008
MyVariant Identifiers: chr15:g.35085624G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793423G>A , CM000677.2:g.34793423G>A GRCh38
NC_000015.9:g.35085624G>A , CM000677.1:g.35085624G>A GRCh37
NC_000015.8:g.32872916G>A NCBI36
NG_007553.1:g.7304C>T , LRG_388:g.7304C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.382C>T (ACTC1)
ENST00000290378.6:c.276C>T (ACTC1) MANE Select ENSP00000290378.4:p.Phe92=
ENST00000647798.1:n.423C>T (ACTC1)
ENST00000648556.1:n.433C>T (ACTC1)
ENST00000650163.1:n.356C>T (ACTC1)
ENST00000290378.4:c.276C>T (ACTC1) ENSP00000290378.4:p.Phe92=
NM_005159.4:c.276C>T , LRG_388t1:c.276C>T (ACTC1) NP_005150.1:p.Phe92=
NR_120329.1:n.299+15992G>A (GJD2-DT)
NM_005159.5:c.276C>T (ACTC1) MANE Select NP_005150.1:p.Phe92=
Search 100 bp 5'
Search 100 bp 3'