Canonical Allele Identifier: CA391633109
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 1038128
ClinVar RCV Id: RCV001341397 RCV002368125
dbSNP Id: rs1373760624
gnomAD v4: 15-34794708-G-C
MyVariant Identifiers: chr15:g.35086909G>C (hg19) chr15:g.34794708G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34794708G>C , CM000677.2:g.34794708G>C GRCh38
NC_000015.9:g.35086909G>C , CM000677.1:g.35086909G>C GRCh37
NC_000015.8:g.32874201G>C NCBI36
NG_007553.1:g.6019C>G , LRG_388:g.6019C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.207C>G (ACTC1)
ENST00000290378.6:c.101C>G (ACTC1) MANE Select ENSP00000290378.4:p.Pro34Arg
ENST00000290378.4:c.101C>G (ACTC1) ENSP00000290378.4:p.Pro34Arg
NM_005159.4:c.101C>G , LRG_388t1:c.101C>G (ACTC1) NP_005150.1:p.Pro34Arg
NR_120329.1:n.300-15788G>C (GJD2-DT)
NM_005159.5:c.101C>G (ACTC1) MANE Select NP_005150.1:p.Pro34Arg
Search 100 bp 5'
Search 100 bp 3'