Canonical Allele Identifier: CA1583356775
Gene: UQCRQ HGNC NCBI

Linked Data

dbSNP Id: rs1759706248

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132868819T>G , CM000667.2:g.132868819T>G GRCh38
NC_000005.9:g.132204511T>G , CM000667.1:g.132204511T>G GRCh37
NC_000005.8:g.132232410T>G NCBI36
NG_012221.1:g.7193T>G
NG_047051.1:g.3066A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378670.8:c.*1237T>G MANE Select ENSP00000367939.3:n.*1237T>G
NM_014402.4:c.*1237T>G NP_055217.2:n.*1237T>G
NM_014402.5:c.*1237T>G MANE Select NP_055217.2:n.*1237T>G