Canonical Allele Identifier: CA7953687
Community Standard Title: NM_003366.4(UQCRC2):c.315A>T (p.Ala105=)
Gene: UQCRC2 HGNC NCBI
PDZD9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21958582A>T , CM000678.2:g.21958582A>T GRCh38
NC_000016.9:g.21969903A>T , CM000678.1:g.21969903A>T GRCh37
NC_000016.8:g.21877404A>T NCBI36
NG_042228.1:g.10519A>T

Transcript Alleles

HGVS Amino-acid Change
NM_003366.4:c.315A>T (UQCRC2) MANE Select NP_003357.2:p.Ala105=
ENST00000268379.9:c.315A>T (UQCRC2) MANE Select ENSP00000268379.4:p.Ala105=
NM_003366.2:c.315A>T (UQCRC2) NP_003357.2:p.Ala105=
NM_003366.3:c.315A>T (UQCRC2) NP_003357.2:p.Ala105=
ENST00000268379.8:c.315A>T (UQCRC2) ENSP00000268379.4:p.Ala105=
ENST00000561553.5:c.315A>T (UQCRC2) ENSP00000456232.1:p.Ala105=
ENST00000563898.5:c.315A>T (UQCRC2) ENSP00000456738.1:p.Ala105=
ENST00000564095.5:c.315A>T (UQCRC2) ENSP00000457600.1:p.Ala105=
ENST00000565331.5:c.231A>T (UQCRC2) ENSP00000455088.1:p.Ala77=
ENST00000565464.5:c.315A>T (UQCRC2) ENSP00000457662.1:p.Ala105=
ENST00000567757.1:n.87-4179A>T (UQCRC2)
ENST00000618892.1:c.127A>T (UQCRC2)
ENST00000630839.2:c.315A>T (UQCRC2) ENSP00000485966.1:p.Ala105=
XM_011545785.1:c.787-965T>A (PDZD9) XP_011544087.1:n.787-965T>A
XM_011545785.3:c.787-965T>A (PDZD9) XP_011544087.1:n.787-965T>A
XM_017023109.1:c.607-965T>A (PDZD9) XP_016878598.1:n.607-965T>A
XM_017023110.1:c.601-965T>A (PDZD9) XP_016878599.1:n.601-965T>A