Canonical Allele Identifier: CA391631229
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 2044786
ClinVar RCV Id: RCV002917682
MyVariant Identifiers: chr15:g.35085460G>C (hg19) chr15:g.34793259G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793259G>C , CM000677.2:g.34793259G>C GRCh38
NC_000015.9:g.35085460G>C , CM000677.1:g.35085460G>C GRCh37
NC_000015.8:g.32872752G>C NCBI36
NG_007553.1:g.7468C>G , LRG_388:g.7468C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.546C>G (ACTC1)
ENST00000290378.6:c.440C>G (ACTC1) MANE Select ENSP00000290378.4:p.Ser147Cys
ENST00000647798.1:n.548+39C>G (ACTC1)
ENST00000648556.1:n.597C>G (ACTC1)
ENST00000650163.1:n.520C>G (ACTC1)
ENST00000290378.4:c.440C>G (ACTC1) ENSP00000290378.4:p.Ser147Cys
NM_005159.4:c.440C>G , LRG_388t1:c.440C>G (ACTC1) NP_005150.1:p.Ser147Cys
NR_120329.1:n.299+15828G>C (GJD2-DT)
NM_005159.5:c.440C>G (ACTC1) MANE Select NP_005150.1:p.Ser147Cys
Search 100 bp 5'
Search 100 bp 3'