Canonical Allele Identifier: CA804030136
Gene: UQCRQ HGNC NCBI

Linked Data

dbSNP Id: rs1194829236
gnomAD v3: 5-132868838-CT-C
gnomAD v4: 5-132868838-CT-C
MyVariant Identifiers: chr5:g.132204531del (hg19) chr5:g.132868839del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132868839del , CM000667.2:g.132868839del GRCh38
NC_000005.9:g.132204531del , CM000667.1:g.132204531del GRCh37
NC_000005.8:g.132232430del NCBI36
NG_012221.1:g.7213del
NG_047051.1:g.3046del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378670.8:c.*1257del MANE Select ENSP00000367939.3:n.*1257del
NM_014402.4:c.*1257del NP_055217.2:n.*1257del
NM_014402.5:c.*1257del MANE Select NP_055217.2:n.*1257del
Search 100 bp 5'
Search 100 bp 3'