Canonical Allele Identifier: CA13273349
Gene: PYROXD2 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.98410626G>A , CM000672.2:g.98410626G>A GRCh38
NC_000010.10:g.100170383G>A , CM000672.1:g.100170383G>A GRCh37
NC_000010.9:g.100160373G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000370575.5:c.147+313C>T MANE Select ENSP00000359607.4:n.147+313C>T
ENST00000370575.4:c.147+313C>T ENSP00000359607.4:n.147+313C>T
ENST00000483923.5:n.1036C>T
NM_032709.2:c.147+313C>T NP_116098.2:n.147+313C>T
XM_011540293.1:c.249+313C>T XP_011538595.1:n.249+313C>T
XM_011540294.1:c.249+313C>T XP_011538596.1:n.249+313C>T
XM_011540295.1:c.249+313C>T XP_011538597.1:n.249+313C>T
XM_011540296.1:c.249+313C>T XP_011538598.1:n.249+313C>T
XM_011540299.1:c.249+313C>T XP_011538601.1:n.249+313C>T
XM_011540300.1:c.249+313C>T XP_011538602.1:n.249+313C>T
XR_945839.1:n.2320+313C>T
XR_945840.1:n.2322+313C>T
XR_945841.1:n.2324+313C>T
XR_945842.1:n.2322+313C>T
XR_945843.1:n.2325+313C>T
XR_945844.1:n.2326+313C>T
XR_945845.1:n.2326+313C>T
XM_011540293.2:c.249+313C>T XP_011538595.1:n.249+313C>T
XM_017016835.1:c.147+313C>T XP_016872324.1:n.147+313C>T
XM_017016836.1:c.147+313C>T XP_016872325.1:n.147+313C>T
XM_017016837.1:c.147+313C>T XP_016872326.1:n.147+313C>T
XR_001747233.1:n.194+313C>T
XR_001747234.1:n.194+313C>T
XR_001747235.1:n.194+313C>T
XR_001747236.1:n.194+313C>T
XR_001747237.1:n.194+313C>T
XR_001747238.1:n.194+313C>T
XR_001747239.1:n.194+313C>T
XR_001747240.1:n.194+313C>T
NM_032709.3:c.147+313C>T MANE Select NP_116098.2:n.147+313C>T