Canonical Allele Identifier: CA127292432

Gene: UQCRQ

Linked Data

• dbSNP Id: rs964272385
• gnomAD v3: 5-132868777-C-G
• gnomAD v4: 5-132868777-C-G
• MyVariant Identifiers: chr5:g.132204469C>G (hg19) ; chr5:g.132868777C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132868777C>G , CM000667.2:g.132868777C>G	GRCh38
NC_000005.9:g.132204469C>G , CM000667.1:g.132204469C>G	GRCh37
NC_000005.8:g.132232368C>G	NCBI36
NG_012221.1:g.7151C>G
NG_047051.1:g.3108G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378670.8:c.*1195C>G MANE Select	ENSP00000367939.3:n.*1195C>G
NM_014402.4:c.*1195C>G	NP_055217.2:n.*1195C>G
NM_014402.5:c.*1195C>G MANE Select	NP_055217.2:n.*1195C>G