Canonical Allele Identifier: CA412574265

Gene: PHEX PTCHD1-AS

Linked Data

• MyVariant Identifiers: chrX:g.22244625G>C (hg19) ; chrX:g.22226508G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22226508G>C , CM000685.2:g.22226508G>C	GRCh38
NC_000023.10:g.22244625G>C , CM000685.1:g.22244625G>C	GRCh37
NC_000023.9:g.22154546G>C	NCBI36
NG_007563.2:g.198705G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.*4G>C (PHEX)	ENSP00000508003.1:n.*4G>C
ENST00000683162.1:c.519G>C (PHEX)	ENSP00000508059.1:p.Arg173Ser
ENST00000683289.1:c.519G>C (PHEX)	ENSP00000508195.1:p.Arg173Ser
ENST00000683917.1:n.749G>C (PHEX)
ENST00000684356.1:c.519G>C (PHEX)	ENSP00000507619.1:p.Arg173Ser
ENST00000684745.1:n.1639G>C (PHEX)
ENST00000379374.5:c.1965G>C (PHEX) MANE Select	ENSP00000368682.4:p.Arg655Ser
ENST00000379374.4:c.1965G>C (PHEX)	ENSP00000368682.4:p.Arg655Ser
NM_000444.5:c.1965G>C (PHEX)	NP_000435.3:p.Arg655Ser
NM_001282754.1:c.1965G>C (PHEX)	NP_001269683.1:p.Arg655Ser
XM_011545533.1:c.1209G>C (PHEX)	XP_011543835.1:p.Arg403Ser
XM_011545534.1:c.1209G>C (PHEX)	XP_011543836.1:p.Arg403Ser
XM_011545536.1:c.858G>C (PHEX)	XP_011543838.1:p.Arg286Ser
XR_950534.1:n.326-485C>G
NR_073010.2:n.1048+962C>G (PTCHD1-AS)
XM_011545536.2:c.858G>C (PHEX)	XP_011543838.1:p.Arg286Ser
XM_017029579.1:c.1209G>C (PHEX)	XP_016885068.1:p.Arg403Ser
XM_024452390.1:c.1674G>C (PHEX)	XP_024308158.1:p.Arg558Ser
XR_001755695.1:n.2805G>C (PHEX)
NM_000444.6:c.1965G>C (PHEX) MANE Select	NP_000435.3:p.Arg655Ser
NM_001282754.2:c.1965G>C (PHEX)	NP_001269683.1:p.Arg655Ser