Canonical Allele Identifier: CA412575367

Gene: PHEX PTCHD1-AS

Linked Data

• MyVariant Identifiers: chrX:g.22265979C>G (hg19) ; chrX:g.22247862C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247862C>G , CM000685.2:g.22247862C>G	GRCh38
NC_000023.10:g.22265979C>G , CM000685.1:g.22265979C>G	GRCh37
NC_000023.9:g.22175900C>G	NCBI36
NG_007563.2:g.220059C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000683162.1:c.*97C>G (PHEX)	ENSP00000508059.1:n.*97C>G
ENST00000683289.1:c.624+20251C>G (PHEX)	ENSP00000508195.1:n.624+20251C>G
ENST00000683917.1:n.943C>G (PHEX)
ENST00000684356.1:c.713C>G (PHEX)	ENSP00000507619.1:p.Ala238Gly
ENST00000684745.1:n.1833C>G (PHEX)
ENST00000379374.5:c.2159C>G (PHEX) MANE Select	ENSP00000368682.4:p.Ala720Gly
ENST00000379374.4:c.2159C>G (PHEX)	ENSP00000368682.4:p.Ala720Gly
NM_000444.5:c.2159C>G (PHEX)	NP_000435.3:p.Ala720Gly
NM_001282754.1:c.2082C>G (PHEX)	NP_001269683.1:p.Cys694Trp
XM_011545533.1:c.1403C>G (PHEX)	XP_011543835.1:p.Ala468Gly
XM_011545534.1:c.1403C>G (PHEX)	XP_011543836.1:p.Ala468Gly
XM_011545536.1:c.1052C>G (PHEX)	XP_011543838.1:p.Ala351Gly
XR_950533.1:n.140+6077G>C
XR_950534.1:n.127+6077G>C
NR_073010.2:n.850+6077G>C (PTCHD1-AS)
XM_011545536.2:c.1052C>G (PHEX)	XP_011543838.1:p.Ala351Gly
XM_017029579.1:c.1403C>G (PHEX)	XP_016885068.1:p.Ala468Gly
XM_024452390.1:c.1868C>G (PHEX)	XP_024308158.1:p.Ala623Gly
XR_001755695.1:n.2999C>G (PHEX)
NM_000444.6:c.2159C>G (PHEX) MANE Select	NP_000435.3:p.Ala720Gly
NM_001282754.2:c.2082C>G (PHEX)	NP_001269683.1:p.Cys694Trp