×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA268659183
Gene: ACTC1
HGNC
NCBI
GJD2-DT
HGNC
NCBI
Linked Data
dbSNP Id:
rs76039064
gnomAD v3:
15-34789456-G-A
gnomAD v4:
15-34789456-G-A
MyVariant Identifiers:
chr15:g.35081657G>A (hg19)
chr15:g.34789456G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.34789456G>A , CM000677.2:g.34789456G>A
GRCh38
NC_000015.9:g.35081657G>A , CM000677.1:g.35081657G>A
GRCh37
NC_000015.8:g.32868949G>A
NCBI36
NG_007553.1:g.11271C>T , LRG_388:g.11271C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000290378.4:c.*956C>T
(ACTC1)
ENSP00000290378.4:n.*956C>T
NM_005159.4:c.*956C>T , LRG_388t1:c.*956C>T
(ACTC1)
NP_005150.1:n.*956C>T
NR_120329.1:n.299+12025G>A
(GJD2-DT)
Search 100 bp 5'
Search 100 bp 3'