×
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:
CA2710086061
Gene: UQCRQ
HGNC
NCBI
Linked Data
dbSNP Id:
rs1477439186
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.132868696A>G , CM000667.2:g.132868696A>G
GRCh38
NC_000005.9:g.132204388A>G , CM000667.1:g.132204388A>G
GRCh37
NC_000005.8:g.132232287A>G
NCBI36
NG_012221.1:g.7070A>G
NG_047051.1:g.3189T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000378670.8:c.*1114A>G
MANE Select
ENSP00000367939.3:n.*1114A>G
NM_014402.4:c.*1114A>G
NP_055217.2:n.*1114A>G
NM_014402.5:c.*1114A>G
MANE Select
NP_055217.2:n.*1114A>G
Search 100 bp 5'
Search 100 bp 3'