Canonical Allele Identifier: CA515431151

Gene: PHEX PTCHD1-AS

Linked Data

• MyVariant Identifiers: chrX:g.22266010T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247893T>G , CM000685.2:g.22247893T>G	GRCh38
NC_000023.10:g.22266010T>G , CM000685.1:g.22266010T>G	GRCh37
NC_000023.9:g.22175931T>G	NCBI36
NG_007563.2:g.220090T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*128T>G (PHEX)	ENSP00000508059.1:n.*128T>G
ENST00000683289.1:c.624+20282T>G (PHEX)	ENSP00000508195.1:n.624+20282T>G
ENST00000683917.1:n.974T>G (PHEX)
ENST00000684356.1:c.744T>G (PHEX)	ENSP00000507619.1:p.Ala248=
ENST00000684745.1:n.1864T>G (PHEX)
ENST00000379374.5:c.2190T>G (PHEX) MANE Select	ENSP00000368682.4:p.Ala730=
ENST00000379374.4:c.2190T>G (PHEX)	ENSP00000368682.4:p.Ala730=
NM_000444.5:c.2190T>G (PHEX)	NP_000435.3:p.Ala730=
NM_001282754.1:c.*25T>G (PHEX)	NP_001269683.1:n.*25T>G
XM_011545533.1:c.1434T>G (PHEX)	XP_011543835.1:p.Ala478=
XM_011545534.1:c.1434T>G (PHEX)	XP_011543836.1:p.Ala478=
XM_011545536.1:c.1083T>G (PHEX)	XP_011543838.1:p.Ala361=
XR_950533.1:n.140+6046A>C
XR_950534.1:n.127+6046A>C
NR_073010.2:n.850+6046A>C (PTCHD1-AS)
XM_011545536.2:c.1083T>G (PHEX)	XP_011543838.1:p.Ala361=
XM_017029579.1:c.1434T>G (PHEX)	XP_016885068.1:p.Ala478=
XM_024452390.1:c.1899T>G (PHEX)	XP_024308158.1:p.Ala633=
XR_001755695.1:n.3030T>G (PHEX)
NM_000444.6:c.2190T>G (PHEX) MANE Select	NP_000435.3:p.Ala730=
NM_001282754.2:c.*25T>G (PHEX)	NP_001269683.1:n.*25T>G