Canonical Allele Identifier: CA412571162

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22076453T>A , CM000685.2:g.22076453T>A	GRCh38
NC_000023.10:g.22094571T>A , CM000685.1:g.22094571T>A	GRCh37
NC_000023.9:g.22004492T>A	NCBI36
NG_007563.2:g.48651T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.415T>A MANE Select	NP_000435.3:p.Tyr139Asn
ENST00000379374.5:c.415T>A MANE Select	ENSP00000368682.4:p.Tyr139Asn
NM_000444.5:c.415T>A	NP_000435.3:p.Tyr139Asn
NM_001282754.1:c.415T>A	NP_001269683.1:p.Tyr139Asn
NM_001282754.2:c.415T>A	NP_001269683.1:p.Tyr139Asn
ENST00000379374.4:c.415T>A	ENSP00000368682.4:p.Tyr139Asn
ENST00000475778.2:n.841T>A
ENST00000683214.1:n.545-1023T>A
ENST00000684143.1:c.415T>A	ENSP00000508264.1:p.Tyr139Asn
ENST00000684745.1:n.92T>A
XM_011545535.1:c.415T>A	XP_011543837.1:p.Tyr139Asn
XM_017029579.1:c.-93-13976T>A	XP_016885068.1:n.-93-13976T>A
XM_024452390.1:c.124T>A	XP_024308158.1:p.Tyr42Asn
XR_001755695.1:n.1094T>A