Canonical Allele Identifier: CA127292440
Gene: UQCRQ HGNC NCBI

Linked Data

dbSNP Id: rs1011520850
MyVariant Identifiers: chr5:g.132204481C>T (hg19) chr5:g.132868789C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132868789C>T , CM000667.2:g.132868789C>T GRCh38
NC_000005.9:g.132204481C>T , CM000667.1:g.132204481C>T GRCh37
NC_000005.8:g.132232380C>T NCBI36
NG_012221.1:g.7163C>T
NG_047051.1:g.3096G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378670.8:c.*1207C>T MANE Select ENSP00000367939.3:n.*1207C>T
NM_014402.4:c.*1207C>T NP_055217.2:n.*1207C>T
NM_014402.5:c.*1207C>T MANE Select NP_055217.2:n.*1207C>T
Search 100 bp 5'
Search 100 bp 3'