Canonical Allele Identifier: CA391631267
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 2950652
ClinVar RCV Id: RCV003809962
MyVariant Identifiers: chr15:g.35085479C>G (hg19) chr15:g.34793278C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793278C>G , CM000677.2:g.34793278C>G GRCh38
NC_000015.9:g.35085479C>G , CM000677.1:g.35085479C>G GRCh37
NC_000015.8:g.32872771C>G NCBI36
NG_007553.1:g.7449G>C , LRG_388:g.7449G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.527G>C (ACTC1)
ENST00000290378.6:c.421G>C (ACTC1) MANE Select ENSP00000290378.4:p.Val141Leu
ENST00000647798.1:n.548+20G>C (ACTC1)
ENST00000648556.1:n.578G>C (ACTC1)
ENST00000650163.1:n.501G>C (ACTC1)
ENST00000290378.4:c.421G>C (ACTC1) ENSP00000290378.4:p.Val141Leu
NM_005159.4:c.421G>C , LRG_388t1:c.421G>C (ACTC1) NP_005150.1:p.Val141Leu
NR_120329.1:n.299+15847C>G (GJD2-DT)
NM_005159.5:c.421G>C (ACTC1) MANE Select NP_005150.1:p.Val141Leu
Search 100 bp 5'
Search 100 bp 3'