Canonical Allele Identifier: CA2169203852
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1891677743
gnomAD v4: 15-34790375-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34790375C>T , CM000677.2:g.34790375C>T GRCh38
NC_000015.9:g.35082576C>T , CM000677.1:g.35082576C>T GRCh37
NC_000015.8:g.32869868C>T NCBI36
NG_007553.1:g.10352G>A , LRG_388:g.10352G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.2071G>A (ACTC1)
ENST00000290378.6:c.*37G>A (ACTC1) MANE Select ENSP00000290378.4:n.*37G>A
ENST00000647798.1:n.1265G>A (ACTC1)
ENST00000650163.1:n.1251G>A (ACTC1)
ENST00000290378.4:c.*37G>A (ACTC1) ENSP00000290378.4:n.*37G>A
NM_005159.4:c.*37G>A , LRG_388t1:c.*37G>A (ACTC1) NP_005150.1:n.*37G>A
NR_120329.1:n.299+12944C>T (GJD2-DT)
NM_005159.5:c.*37G>A (ACTC1) MANE Select NP_005150.1:n.*37G>A
Search 100 bp 5'
Search 100 bp 3'