×
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:
CA10628603
Gene: DNAJB6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
359479
ClinVar RCV Id:
RCV000335829
RCV000406773
RCV003311782
dbSNP Id:
rs886062136
gnomAD v2:
7-157209726-C-T
gnomAD v3:
7-157417032-C-T
gnomAD v4:
7-157417032-C-T
MyVariant Identifiers:
chr7:g.157209726C>T (hg19)
chr7:g.157417032C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.157417032C>T , CM000669.2:g.157417032C>T
GRCh38
NC_000007.13:g.157209726C>T , CM000669.1:g.157209726C>T
GRCh37
NC_000007.12:g.156902487C>T
NCBI36
NG_032573.1:g.85017C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000262177.9:c.*934C>T
MANE Select
ENSP00000262177.4:n.*934C>T
ENST00000262177.8:c.*934C>T
ENSP00000262177.4:n.*934C>T
ENST00000459889.5:c.*6438C>T
ENSP00000488263.1:n.*6438C>T
NM_058246.3:c.*934C>T
NP_490647.1:n.*934C>T
XM_006715823.1:c.*934C>T
XP_006715886.1:n.*934C>T
NM_001363676.1:c.*934C>T
NP_001350605.1:n.*934C>T
XM_006715823.2:c.*934C>T
XP_006715886.1:n.*934C>T
NM_058246.4:c.*934C>T
MANE Select
NP_490647.1:n.*934C>T
Search 100 bp 5'
Search 100 bp 3'