Canonical Allele Identifier: CA1583356673
Gene: UQCRQ HGNC NCBI

Linked Data

dbSNP Id: rs894372747

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132868639G>T , CM000667.2:g.132868639G>T GRCh38
NC_000005.9:g.132204331G>T , CM000667.1:g.132204331G>T GRCh37
NC_000005.8:g.132232230G>T NCBI36
NG_012221.1:g.7013G>T
NG_047051.1:g.3246C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378670.8:c.*1057G>T MANE Select ENSP00000367939.3:n.*1057G>T
NM_014402.4:c.*1057G>T NP_055217.2:n.*1057G>T
NM_014402.5:c.*1057G>T MANE Select NP_055217.2:n.*1057G>T