Canonical Allele Identifier: CA412574206

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 1452348
• ClinVar RCV Id: RCV001999762
• dbSNP Id: rs2147183168
• MyVariant Identifiers: chrX:g.22244597A>G (hg19) ; chrX:g.22226480A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22226480A>G , CM000685.2:g.22226480A>G	GRCh38
NC_000023.10:g.22244597A>G , CM000685.1:g.22244597A>G	GRCh37
NC_000023.9:g.22154518A>G	NCBI36
NG_007563.2:g.198677A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.491A>G (PHEX)	ENSP00000508003.1:p.Asp164Gly
ENST00000683162.1:c.491A>G (PHEX)	ENSP00000508059.1:p.Asp164Gly
ENST00000683289.1:c.491A>G (PHEX)	ENSP00000508195.1:p.Asp164Gly
ENST00000683917.1:n.721A>G (PHEX)
ENST00000684356.1:c.491A>G (PHEX)	ENSP00000507619.1:p.Asp164Gly
ENST00000684745.1:n.1611A>G (PHEX)
ENST00000379374.5:c.1937A>G (PHEX) MANE Select	ENSP00000368682.4:p.Asp646Gly
ENST00000379374.4:c.1937A>G (PHEX)	ENSP00000368682.4:p.Asp646Gly
NM_000444.5:c.1937A>G (PHEX)	NP_000435.3:p.Asp646Gly
NM_001282754.1:c.1937A>G (PHEX)	NP_001269683.1:p.Asp646Gly
XM_011545533.1:c.1181A>G (PHEX)	XP_011543835.1:p.Asp394Gly
XM_011545534.1:c.1181A>G (PHEX)	XP_011543836.1:p.Asp394Gly
XM_011545536.1:c.830A>G (PHEX)	XP_011543838.1:p.Asp277Gly
XR_950534.1:n.326-457T>C
NR_073010.2:n.1048+990T>C (PTCHD1-AS)
XM_011545536.2:c.830A>G (PHEX)	XP_011543838.1:p.Asp277Gly
XM_017029579.1:c.1181A>G (PHEX)	XP_016885068.1:p.Asp394Gly
XM_024452390.1:c.1646A>G (PHEX)	XP_024308158.1:p.Asp549Gly
XR_001755695.1:n.2777A>G (PHEX)
NM_000444.6:c.1937A>G (PHEX) MANE Select	NP_000435.3:p.Asp646Gly
NM_001282754.2:c.1937A>G (PHEX)	NP_001269683.1:p.Asp646Gly