Canonical Allele Identifier: CA712281642
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1310705298
gnomAD v3: 15-34794260-T-A
gnomAD v4: 15-34794260-T-A
MyVariant Identifiers: chr15:g.35086461T>A (hg19) chr15:g.34794260T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34794260T>A , CM000677.2:g.34794260T>A GRCh38
NC_000015.9:g.35086461T>A , CM000677.1:g.35086461T>A GRCh37
NC_000015.8:g.32873753T>A NCBI36
NG_007553.1:g.6467A>T , LRG_388:g.6467A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.235+420A>T (ACTC1)
ENST00000290378.6:c.129+420A>T (ACTC1) MANE Select ENSP00000290378.4:n.129+420A>T
ENST00000290378.4:c.129+420A>T (ACTC1) ENSP00000290378.4:n.129+420A>T
NM_005159.4:c.129+420A>T , LRG_388t1:c.129+420A>T (ACTC1) NP_005150.1:n.129+420A>T
NR_120329.1:n.300-16236T>A (GJD2-DT)
NM_005159.5:c.129+420A>T (ACTC1) MANE Select NP_005150.1:n.129+420A>T
Search 100 bp 5'
Search 100 bp 3'