Canonical Allele Identifier: CA13200543

Gene: PYROXD2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.98397096T>C , CM000672.2:g.98397096T>C	GRCh38
NC_000010.10:g.100156853T>C , CM000672.1:g.100156853T>C	GRCh37
NC_000010.9:g.100146843T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370575.5:c.625+249A>G MANE Select	ENSP00000359607.4:n.625+249A>G
ENST00000370575.4:c.625+249A>G	ENSP00000359607.4:n.625+249A>G
ENST00000483923.5:n.1527+249A>G
NM_032709.2:c.625+249A>G	NP_116098.2:n.625+249A>G
XM_011540293.1:c.727+249A>G	XP_011538595.1:n.727+249A>G
XM_011540294.1:c.727+249A>G	XP_011538596.1:n.727+249A>G
XM_011540295.1:c.727+249A>G	XP_011538597.1:n.727+249A>G
XM_011540296.1:c.727+249A>G	XP_011538598.1:n.727+249A>G
XM_011540297.1:c.262+249A>G	XP_011538599.1:n.262+249A>G
XM_011540298.1:c.262+249A>G	XP_011538600.1:n.262+249A>G
XM_011540299.1:c.727+249A>G	XP_011538601.1:n.727+249A>G
XM_011540300.1:c.727+249A>G	XP_011538602.1:n.727+249A>G
XR_945839.1:n.2798+249A>G
XR_945840.1:n.2800+249A>G
XR_945841.1:n.2802+249A>G
XR_945842.1:n.2800+249A>G
XR_945843.1:n.2803+249A>G
XR_945844.1:n.2804+249A>G
XR_945845.1:n.2804+249A>G
XM_011540293.2:c.727+249A>G	XP_011538595.1:n.727+249A>G
XM_017016835.1:c.625+249A>G	XP_016872324.1:n.625+249A>G
XM_017016836.1:c.625+249A>G	XP_016872325.1:n.625+249A>G
XM_017016837.1:c.625+249A>G	XP_016872326.1:n.625+249A>G
XM_017016838.1:c.262+249A>G	XP_016872327.1:n.262+249A>G
XM_017016839.2:c.262+249A>G	XP_016872328.1:n.262+249A>G
XM_017016840.1:c.262+249A>G	XP_016872329.1:n.262+249A>G
XM_017016841.1:c.262+249A>G	XP_016872330.1:n.262+249A>G
XR_001747233.1:n.672+249A>G
XR_001747234.1:n.672+249A>G
XR_001747235.1:n.672+249A>G
XR_001747236.1:n.672+249A>G
XR_001747237.1:n.672+249A>G
XR_001747238.1:n.672+249A>G
XR_001747239.1:n.672+249A>G
XR_001747240.1:n.672+249A>G
NM_032709.3:c.625+249A>G MANE Select	NP_116098.2:n.625+249A>G