Canonical Allele Identifier: CA719056010

Gene: UQCRC2 PDZD9

Linked Data

• dbSNP Id: rs1472107619
• gnomAD v4: 16-21974074-G-A
• MyVariant Identifiers: chr16:g.21985395G>A (hg19) ; chr16:g.21974074G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21974074G>A , CM000678.2:g.21974074G>A	GRCh38
NC_000016.9:g.21985395G>A , CM000678.1:g.21985395G>A	GRCh37
NC_000016.8:g.21892896G>A	NCBI36
NG_042228.1:g.26011G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268379.9:c.1047+98G>A (UQCRC2) MANE Select	ENSP00000268379.4:n.1047+98G>A
ENST00000268379.8:c.1047+98G>A (UQCRC2)	ENSP00000268379.4:n.1047+98G>A
ENST00000561553.5:c.1047+98G>A (UQCRC2)	ENSP00000456232.1:n.1047+98G>A
ENST00000563711.5:n.1227+98G>A (UQCRC2)
ENST00000563898.5:c.966+1952G>A (UQCRC2)	ENSP00000456738.1:n.966+1952G>A
NM_003366.2:c.1047+98G>A (UQCRC2)	NP_003357.2:n.1047+98G>A
NM_003366.3:c.1047+98G>A (UQCRC2)	NP_003357.2:n.1047+98G>A
XM_011545785.1:c.786+10202C>T (PDZD9)	XP_011544087.1:n.786+10202C>T
XM_011545785.3:c.786+10202C>T (PDZD9)	XP_011544087.1:n.786+10202C>T
XM_017023109.1:c.606+10202C>T (PDZD9)	XP_016878598.1:n.606+10202C>T
XM_017023110.1:c.600+10202C>T (PDZD9)	XP_016878599.1:n.600+10202C>T
NM_003366.4:c.1047+98G>A (UQCRC2) MANE Select	NP_003357.2:n.1047+98G>A