Canonical Allele Identifier: CA412574827

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22196412A>T (hg19) ; chrX:g.22178295A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178295A>T , CM000685.2:g.22178295A>T	GRCh38
NC_000023.10:g.22196412A>T , CM000685.1:g.22196412A>T	GRCh37
NC_000023.9:g.22106333A>T	NCBI36
NG_007563.2:g.150492A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.59A>T	ENSP00000508003.1:p.Tyr20Phe
ENST00000683162.1:c.59A>T	ENSP00000508059.1:p.Tyr20Phe
ENST00000683289.1:c.59A>T	ENSP00000508195.1:p.Tyr20Phe
ENST00000683917.1:n.289A>T
ENST00000684356.1:c.59A>T	ENSP00000507619.1:p.Tyr20Phe
ENST00000684745.1:n.1179A>T
ENST00000379374.5:c.1505A>T MANE Select	ENSP00000368682.4:p.Tyr502Phe
ENST00000379374.4:c.1505A>T	ENSP00000368682.4:p.Tyr502Phe
NM_000444.5:c.1505A>T	NP_000435.3:p.Tyr502Phe
NM_001282754.1:c.1505A>T	NP_001269683.1:p.Tyr502Phe
XM_011545533.1:c.749A>T	XP_011543835.1:p.Tyr250Phe
XM_011545534.1:c.749A>T	XP_011543836.1:p.Tyr250Phe
XM_011545536.1:c.398A>T	XP_011543838.1:p.Tyr133Phe
XM_011545536.2:c.398A>T	XP_011543838.1:p.Tyr133Phe
XM_017029579.1:c.749A>T	XP_016885068.1:p.Tyr250Phe
XM_024452390.1:c.1214A>T	XP_024308158.1:p.Tyr405Phe
XR_001755695.1:n.2345A>T
NM_000444.6:c.1505A>T MANE Select	NP_000435.3:p.Tyr502Phe
NM_001282754.2:c.1505A>T	NP_001269683.1:p.Tyr502Phe