Canonical Allele Identifier: CA412575578

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 1068102
• ClinVar RCV Id: RCV001379551
• dbSNP Id: rs1602442871
• MyVariant Identifiers: chrX:g.22266069A>T (hg19) ; chrX:g.22247952A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247952A>T , CM000685.2:g.22247952A>T	GRCh38
NC_000023.10:g.22266069A>T , CM000685.1:g.22266069A>T	GRCh37
NC_000023.9:g.22175990A>T	NCBI36
NG_007563.2:g.220149A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*187A>T (PHEX)	ENSP00000508059.1:n.*187A>T
ENST00000683289.1:c.624+20341A>T (PHEX)	ENSP00000508195.1:n.624+20341A>T
ENST00000683917.1:n.1033A>T (PHEX)
ENST00000684356.1:c.803A>T (PHEX)	ENSP00000507619.1:p.Ter268Leu
ENST00000684745.1:n.1923A>T (PHEX)
ENST00000379374.5:c.2249A>T (PHEX) MANE Select	ENSP00000368682.4:p.Ter750Leu
ENST00000379374.4:c.2249A>T (PHEX)	ENSP00000368682.4:p.Ter750Leu
NM_000444.5:c.2249A>T (PHEX)	NP_000435.3:p.Ter750Leu
NM_001282754.1:c.*84A>T (PHEX)	NP_001269683.1:n.*84A>T
XM_011545533.1:c.1493A>T (PHEX)	XP_011543835.1:p.Ter498Leu
XM_011545534.1:c.1493A>T (PHEX)	XP_011543836.1:p.Ter498Leu
XM_011545536.1:c.1142A>T (PHEX)	XP_011543838.1:p.Ter381Leu
XR_950533.1:n.140+5987T>A
XR_950534.1:n.127+5987T>A
NR_073010.2:n.850+5987T>A (PTCHD1-AS)
XM_011545536.2:c.1142A>T (PHEX)	XP_011543838.1:p.Ter381Leu
XM_017029579.1:c.1493A>T (PHEX)	XP_016885068.1:p.Ter498Leu
XM_024452390.1:c.1958A>T (PHEX)	XP_024308158.1:p.Ter653Leu
XR_001755695.1:n.3089A>T (PHEX)
NM_000444.6:c.2249A>T (PHEX) MANE Select	NP_000435.3:p.Ter750Leu
NM_001282754.2:c.*84A>T (PHEX)	NP_001269683.1:n.*84A>T