Canonical Allele Identifier: CA412575630

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 936430
• ClinVar RCV Id: RCV001205224
• dbSNP Id: rs1934977011
• MyVariant Identifiers: chrX:g.22231041C>T (hg19) ; chrX:g.22212924C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22212924C>T , CM000685.2:g.22212924C>T	GRCh38
NC_000023.10:g.22231041C>T , CM000685.1:g.22231041C>T	GRCh37
NC_000023.9:g.22140962C>T	NCBI36
NG_007563.2:g.185121C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682888.1:c.220C>T (PHEX)	ENSP00000508003.1:p.Gln74Ter
ENST00000683162.1:c.220C>T (PHEX)	ENSP00000508059.1:p.Gln74Ter
ENST00000683289.1:c.220C>T (PHEX)	ENSP00000508195.1:p.Gln74Ter
ENST00000683917.1:n.450C>T (PHEX)
ENST00000684356.1:c.220C>T (PHEX)	ENSP00000507619.1:p.Gln74Ter
ENST00000684745.1:n.1340C>T (PHEX)
ENST00000379374.5:c.1666C>T (PHEX) MANE Select	ENSP00000368682.4:p.Gln556Ter
ENST00000379374.4:c.1666C>T (PHEX)	ENSP00000368682.4:p.Gln556Ter
NM_000444.5:c.1666C>T (PHEX)	NP_000435.3:p.Gln556Ter
NM_001282754.1:c.1666C>T (PHEX)	NP_001269683.1:p.Gln556Ter
XM_011545533.1:c.910C>T (PHEX)	XP_011543835.1:p.Gln304Ter
XM_011545534.1:c.910C>T (PHEX)	XP_011543836.1:p.Gln304Ter
XM_011545536.1:c.559C>T (PHEX)	XP_011543838.1:p.Gln187Ter
NR_073010.2:n.1049-10154G>A (PTCHD1-AS)
XM_011545536.2:c.559C>T (PHEX)	XP_011543838.1:p.Gln187Ter
XM_017029579.1:c.910C>T (PHEX)	XP_016885068.1:p.Gln304Ter
XM_024452390.1:c.1375C>T (PHEX)	XP_024308158.1:p.Gln459Ter
XR_001755695.1:n.2506C>T (PHEX)
NM_000444.6:c.1666C>T (PHEX) MANE Select	NP_000435.3:p.Gln556Ter
NM_001282754.2:c.1666C>T (PHEX)	NP_001269683.1:p.Gln556Ter