Canonical Allele Identifier: CA378032813

Gene: PYROXD2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.98387305A>G , CM000672.2:g.98387305A>G	GRCh38
NC_000010.10:g.100147062A>G , CM000672.1:g.100147062A>G	GRCh37
NC_000010.9:g.100137052A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370575.5:c.1450T>C MANE Select	ENSP00000359607.4:p.Phe484Leu
ENST00000370575.4:c.1450T>C	ENSP00000359607.4:p.Phe484Leu
ENST00000464808.1:n.306T>C
ENST00000483923.5:n.2336T>C
NM_032709.2:c.1450T>C	NP_116098.2:p.Phe484Leu
XM_011540293.1:c.1552T>C	XP_011538595.1:p.Phe518Leu
XM_011540294.1:c.1552T>C	XP_011538596.1:p.Phe518Leu
XM_011540297.1:c.1087T>C	XP_011538599.1:p.Phe363Leu
XM_011540298.1:c.1087T>C	XP_011538600.1:p.Phe363Leu
XM_011540301.1:c.643T>C	XP_011538603.1:p.Phe215Leu
XR_945839.1:n.3623T>C
XR_945840.1:n.3845T>C
XR_945841.1:n.3692T>C
XR_945842.1:n.3470T>C
XM_011540293.2:c.1552T>C	XP_011538595.1:p.Phe518Leu
XM_011540301.2:c.643T>C	XP_011538603.1:p.Phe215Leu
XM_017016835.1:c.1450T>C	XP_016872324.1:p.Phe484Leu
XM_017016838.1:c.1087T>C	XP_016872327.1:p.Phe363Leu
XM_017016839.2:c.1087T>C	XP_016872328.1:p.Phe363Leu
XM_017016840.1:c.1087T>C	XP_016872329.1:p.Phe363Leu
XM_017016841.1:c.1087T>C	XP_016872330.1:p.Phe363Leu
XR_001747233.1:n.1497T>C
XR_001747234.1:n.1717T>C
XR_001747235.1:n.1562T>C
XR_001747236.1:n.1342T>C
XR_001747237.1:n.1342T>C
XR_001747238.1:n.1481T>C
XR_001747239.1:n.1481T>C
NM_032709.3:c.1450T>C MANE Select	NP_116098.2:p.Phe484Leu