Canonical Allele Identifier: CA412575429

Gene: PHEX PTCHD1-AS

Linked Data

• MyVariant Identifiers: chrX:g.22266004G>C (hg19) ; chrX:g.22247887G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247887G>C , CM000685.2:g.22247887G>C	GRCh38
NC_000023.10:g.22266004G>C , CM000685.1:g.22266004G>C	GRCh37
NC_000023.9:g.22175925G>C	NCBI36
NG_007563.2:g.220084G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*122G>C (PHEX)	ENSP00000508059.1:n.*122G>C
ENST00000683289.1:c.624+20276G>C (PHEX)	ENSP00000508195.1:n.624+20276G>C
ENST00000683917.1:n.968G>C (PHEX)
ENST00000684356.1:c.738G>C (PHEX)	ENSP00000507619.1:p.Gln246His
ENST00000684745.1:n.1858G>C (PHEX)
ENST00000379374.5:c.2184G>C (PHEX) MANE Select	ENSP00000368682.4:p.Gln728His
ENST00000379374.4:c.2184G>C (PHEX)	ENSP00000368682.4:p.Gln728His
NM_000444.5:c.2184G>C (PHEX)	NP_000435.3:p.Gln728His
NM_001282754.1:c.*19G>C (PHEX)	NP_001269683.1:n.*19G>C
XM_011545533.1:c.1428G>C (PHEX)	XP_011543835.1:p.Gln476His
XM_011545534.1:c.1428G>C (PHEX)	XP_011543836.1:p.Gln476His
XM_011545536.1:c.1077G>C (PHEX)	XP_011543838.1:p.Gln359His
XR_950533.1:n.140+6052C>G
XR_950534.1:n.127+6052C>G
NR_073010.2:n.850+6052C>G (PTCHD1-AS)
XM_011545536.2:c.1077G>C (PHEX)	XP_011543838.1:p.Gln359His
XM_017029579.1:c.1428G>C (PHEX)	XP_016885068.1:p.Gln476His
XM_024452390.1:c.1893G>C (PHEX)	XP_024308158.1:p.Gln631His
XR_001755695.1:n.3024G>C (PHEX)
NM_000444.6:c.2184G>C (PHEX) MANE Select	NP_000435.3:p.Gln728His
NM_001282754.2:c.*19G>C (PHEX)	NP_001269683.1:n.*19G>C