Canonical Allele Identifier: CA412572711

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22097036C>T , CM000685.2:g.22097036C>T	GRCh38
NC_000023.10:g.22115154C>T , CM000685.1:g.22115154C>T	GRCh37
NC_000023.9:g.22025075C>T	NCBI36
NG_007563.2:g.69234C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.931C>T MANE Select	NP_000435.3:p.Gln311Ter
ENST00000379374.5:c.931C>T MANE Select	ENSP00000368682.4:p.Gln311Ter
NM_000444.5:c.931C>T	NP_000435.3:p.Gln311Ter
NM_001282754.1:c.931C>T	NP_001269683.1:p.Gln311Ter
NM_001282754.2:c.931C>T	NP_001269683.1:p.Gln311Ter
ENST00000379374.4:c.931C>T	ENSP00000368682.4:p.Gln311Ter
ENST00000475778.1:n.204C>T
ENST00000475778.2:n.1357C>T
ENST00000684143.1:c.928C>T	ENSP00000508264.1:p.Gln310Ter
ENST00000684745.1:n.605C>T
XM_011545533.1:c.175C>T	XP_011543835.1:p.Gln59Ter
XM_011545534.1:c.175C>T	XP_011543836.1:p.Gln59Ter
XM_011545535.1:c.931C>T	XP_011543837.1:p.Gln311Ter
XM_017029579.1:c.175C>T	XP_016885068.1:p.Gln59Ter
XM_024452390.1:c.640C>T	XP_024308158.1:p.Gln214Ter
XR_001755695.1:n.1610C>T