Canonical Allele Identifier: CA489419656
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1168447209
gnomAD v3: 15-34792139-G-C
gnomAD v4: 15-34792139-G-C
MyVariant Identifiers: chr15:g.35084340G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792139G>C , CM000677.2:g.34792139G>C GRCh38
NC_000015.9:g.35084340G>C , CM000677.1:g.35084340G>C GRCh37
NC_000015.8:g.32871632G>C NCBI36
NG_007553.1:g.8588C>G , LRG_388:g.8588C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.865C>G (ACTC1)
ENST00000290378.6:c.759C>G (ACTC1) MANE Select ENSP00000290378.4:p.Gly253=
ENST00000647798.1:n.853C>G (ACTC1)
ENST00000650163.1:n.839C>G (ACTC1)
ENST00000290378.4:c.759C>G (ACTC1) ENSP00000290378.4:p.Gly253=
ENST00000557860.1:n.449C>G (ACTC1)
ENST00000560563.1:n.258C>G (ACTC1)
NM_005159.4:c.759C>G , LRG_388t1:c.759C>G (ACTC1) NP_005150.1:p.Gly253=
NR_120329.1:n.299+14708G>C (GJD2-DT)
NM_005159.5:c.759C>G (ACTC1) MANE Select NP_005150.1:p.Gly253=
Search 100 bp 5'
Search 100 bp 3'