Canonical Allele Identifier: CA21926461

Gene: UQCRH

Linked Data

• dbSNP Id: rs1052959513
• gnomAD v3: 1-46314036-A-T
• gnomAD v4: 1-46314036-A-T
• MyVariant Identifiers: chr1:g.46779708A>T (hg19) ; chr1:g.46314036A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46314036A>T , CM000663.2:g.46314036A>T	GRCh38
NC_000001.10:g.46779708A>T , CM000663.1:g.46779708A>T	GRCh37
NC_000001.9:g.46552295A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000311672.10:c.244-2516A>T MANE Select	ENSP00000309565.5:n.244-2516A>T
ENST00000311672.9:c.244-2516A>T	ENSP00000309565.5:n.244-2516A>T
ENST00000460947.1:n.397-2516A>T
ENST00000489056.5:c.*83-2516A>T	ENSP00000484857.1:n.*83-2516A>T
ENST00000496387.5:c.*83-2516A>T	ENSP00000477826.1:n.*83-2516A>T
NM_001297565.1:c.226-2516A>T	NP_001284494.1:n.226-2516A>T
NM_001297566.1:c.217-2516A>T	NP_001284495.1:n.217-2516A>T
NM_006004.3:c.244-2516A>T	NP_005995.2:n.244-2516A>T
NM_006004.4:c.244-2516A>T MANE Select	NP_005995.2:n.244-2516A>T
NM_001297565.2:c.226-2516A>T	NP_001284494.1:n.226-2516A>T
NM_001297566.2:c.217-2516A>T	NP_001284495.1:n.217-2516A>T