Canonical Allele Identifier: CA391631217
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

gnomAD v4: 15-34793253-C-T
COSMIC: COSM470531
MyVariant Identifiers: chr15:g.35085454C>T (hg19) chr15:g.34793253C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793253C>T , CM000677.2:g.34793253C>T GRCh38
NC_000015.9:g.35085454C>T , CM000677.1:g.35085454C>T GRCh37
NC_000015.8:g.32872746C>T NCBI36
NG_007553.1:g.7474G>A , LRG_388:g.7474G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.552G>A (ACTC1)
ENST00000290378.6:c.446G>A (ACTC1) MANE Select ENSP00000290378.4:p.Arg149His
ENST00000647798.1:n.548+45G>A (ACTC1)
ENST00000648556.1:n.603G>A (ACTC1)
ENST00000650163.1:n.526G>A (ACTC1)
ENST00000290378.4:c.446G>A (ACTC1) ENSP00000290378.4:p.Arg149His
NM_005159.4:c.446G>A , LRG_388t1:c.446G>A (ACTC1) NP_005150.1:p.Arg149His
NR_120329.1:n.299+15822C>T (GJD2-DT)
NM_005159.5:c.446G>A (ACTC1) MANE Select NP_005150.1:p.Arg149His
Search 100 bp 5'
Search 100 bp 3'