Canonical Allele Identifier: CA489655466
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 2927733
ClinVar RCV Id: RCV003784363
dbSNP Id: rs1595761447
MyVariant Identifiers: chr15:g.35085687A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793486A>G , CM000677.2:g.34793486A>G GRCh38
NC_000015.9:g.35085687A>G , CM000677.1:g.35085687A>G GRCh37
NC_000015.8:g.32872979A>G NCBI36
NG_007553.1:g.7241T>C , LRG_388:g.7241T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.319T>C (ACTC1)
ENST00000290378.6:c.213T>C (ACTC1) MANE Select ENSP00000290378.4:p.Tyr71=
ENST00000647798.1:n.360T>C (ACTC1)
ENST00000648556.1:n.370T>C (ACTC1)
ENST00000650163.1:n.293T>C (ACTC1)
ENST00000290378.4:c.213T>C (ACTC1) ENSP00000290378.4:p.Tyr71=
NM_005159.4:c.213T>C , LRG_388t1:c.213T>C (ACTC1) NP_005150.1:p.Tyr71=
NR_120329.1:n.299+16055A>G (GJD2-DT)
NM_005159.5:c.213T>C (ACTC1) MANE Select NP_005150.1:p.Tyr71=
Search 100 bp 5'
Search 100 bp 3'