Canonical Allele Identifier: CA968568872
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1439205150
gnomAD v3: 15-34790144-G-A
gnomAD v4: 15-34790144-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34790144G>A , CM000677.2:g.34790144G>A GRCh38
NC_000015.9:g.35082345G>A , CM000677.1:g.35082345G>A GRCh37
NC_000015.8:g.32869637G>A NCBI36
NG_007553.1:g.10583C>T , LRG_388:g.10583C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.2302C>T (ACTC1)
ENST00000290378.4:c.*268C>T (ACTC1) ENSP00000290378.4:n.*268C>T
NM_005159.4:c.*268C>T , LRG_388t1:c.*268C>T (ACTC1) NP_005150.1:n.*268C>T
NR_120329.1:n.299+12713G>A (GJD2-DT)
Search 100 bp 5'
Search 100 bp 3'