Canonical Allele Identifier: CA13200552
Gene: PYROXD2 HGNC NCBI

Linked Data

dbSNP Id: rs17455577
gnomAD v2: 10-100165997-C-T
gnomAD v3: 10-98406240-C-T
gnomAD v4: 10-98406240-C-T
MyVariant Identifiers: chr10:g.100165997C>T (hg19) chr10:g.98406240C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.98406240C>T , CM000672.2:g.98406240C>T GRCh38
NC_000010.10:g.100165997C>T , CM000672.1:g.100165997C>T GRCh37
NC_000010.9:g.100155987C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000370575.5:c.315+1342G>A MANE Select ENSP00000359607.4:n.315+1342G>A
ENST00000370575.4:c.315+1342G>A ENSP00000359607.4:n.315+1342G>A
ENST00000483923.5:n.1217+1342G>A
NM_032709.2:c.315+1342G>A NP_116098.2:n.315+1342G>A
XM_011540293.1:c.417+1342G>A XP_011538595.1:n.417+1342G>A
XM_011540294.1:c.417+1342G>A XP_011538596.1:n.417+1342G>A
XM_011540295.1:c.417+1342G>A XP_011538597.1:n.417+1342G>A
XM_011540296.1:c.417+1342G>A XP_011538598.1:n.417+1342G>A
XM_011540297.1:c.-1057+1342G>A XP_011538599.1:n.-1057+1342G>A
XM_011540299.1:c.417+1342G>A XP_011538601.1:n.417+1342G>A
XM_011540300.1:c.417+1342G>A XP_011538602.1:n.417+1342G>A
XR_945839.1:n.2488+1342G>A
XR_945840.1:n.2490+1342G>A
XR_945841.1:n.2492+1342G>A
XR_945842.1:n.2490+1342G>A
XR_945843.1:n.2493+1342G>A
XR_945844.1:n.2494+1342G>A
XR_945845.1:n.2494+1342G>A
XM_011540293.2:c.417+1342G>A XP_011538595.1:n.417+1342G>A
XM_017016835.1:c.315+1342G>A XP_016872324.1:n.315+1342G>A
XM_017016836.1:c.315+1342G>A XP_016872325.1:n.315+1342G>A
XM_017016837.1:c.315+1342G>A XP_016872326.1:n.315+1342G>A
XM_017016838.1:c.-941+1342G>A XP_016872327.1:n.-941+1342G>A
XM_017016839.2:c.-436+1342G>A XP_016872328.1:n.-436+1342G>A
XR_001747233.1:n.362+1342G>A
XR_001747234.1:n.362+1342G>A
XR_001747235.1:n.362+1342G>A
XR_001747236.1:n.362+1342G>A
XR_001747237.1:n.362+1342G>A
XR_001747238.1:n.362+1342G>A
XR_001747239.1:n.362+1342G>A
XR_001747240.1:n.362+1342G>A
NM_032709.3:c.315+1342G>A MANE Select NP_116098.2:n.315+1342G>A
Search 100 bp 5'
Search 100 bp 3'