Canonical Allele Identifier: CA412571357

Gene: PHEX

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22077540G>A , CM000685.2:g.22077540G>A	GRCh38
NC_000023.10:g.22095658G>A , CM000685.1:g.22095658G>A	GRCh37
NC_000023.9:g.22005579G>A	NCBI36
NG_007563.2:g.49738G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.927G>A
ENST00000683214.1:n.609G>A
ENST00000684143.1:c.498G>A	ENSP00000508264.1:p.Trp166Ter
ENST00000684745.1:n.175G>A
ENST00000379374.5:c.501G>A MANE Select	ENSP00000368682.4:p.Trp167Ter
ENST00000379374.4:c.501G>A	ENSP00000368682.4:p.Trp167Ter
NM_000444.5:c.501G>A	NP_000435.3:p.Trp167Ter
NM_001282754.1:c.501G>A	NP_001269683.1:p.Trp167Ter
XM_011545535.1:c.501G>A	XP_011543837.1:p.Trp167Ter
XM_017029579.1:c.-93-12889G>A	XP_016885068.1:n.-93-12889G>A
XM_024452390.1:c.210G>A	XP_024308158.1:p.Trp70Ter
XR_001755695.1:n.1180G>A
NM_000444.6:c.501G>A MANE Select	NP_000435.3:p.Trp167Ter
NM_001282754.2:c.501G>A	NP_001269683.1:p.Trp167Ter