Canonical Allele Identifier: CA16043239

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 373320
• ClinVar RCV Id: RCV000414091
• dbSNP Id: rs896575405
• gnomAD v2: X-22245673-T-C
• gnomAD v3: X-22227556-T-C
• gnomAD v4: X-22227556-T-C
• MyVariant Identifiers: chrX:g.22245673T>C (hg19) ; chrX:g.22227556T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22227556T>C , CM000685.2:g.22227556T>C	GRCh38
NC_000023.10:g.22245673T>C , CM000685.1:g.22245673T>C	GRCh37
NC_000023.9:g.22155594T>C	NCBI36
NG_007563.2:g.199753T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.569T>C (PHEX)	ENSP00000508059.1:p.Leu190Pro
ENST00000683289.1:c.569T>C (PHEX)	ENSP00000508195.1:p.Leu190Pro
ENST00000683917.1:n.799T>C (PHEX)
ENST00000684356.1:c.569T>C (PHEX)	ENSP00000507619.1:p.Leu190Pro
ENST00000684745.1:n.1689T>C (PHEX)
ENST00000379374.5:c.2015T>C (PHEX) MANE Select	ENSP00000368682.4:p.Leu672Pro
ENST00000379374.4:c.2015T>C (PHEX)	ENSP00000368682.4:p.Leu672Pro
NM_000444.5:c.2015T>C (PHEX)	NP_000435.3:p.Leu672Pro
NM_001282754.1:c.2015T>C (PHEX)	NP_001269683.1:p.Leu672Pro
XM_011545533.1:c.1259T>C (PHEX)	XP_011543835.1:p.Leu420Pro
XM_011545534.1:c.1259T>C (PHEX)	XP_011543836.1:p.Leu420Pro
XM_011545536.1:c.908T>C (PHEX)	XP_011543838.1:p.Leu303Pro
XR_950534.1:n.239A>G
NR_073010.2:n.962A>G (PTCHD1-AS)
XM_011545536.2:c.908T>C (PHEX)	XP_011543838.1:p.Leu303Pro
XM_017029579.1:c.1259T>C (PHEX)	XP_016885068.1:p.Leu420Pro
XM_024452390.1:c.1724T>C (PHEX)	XP_024308158.1:p.Leu575Pro
XR_001755695.1:n.2855T>C (PHEX)
NM_000444.6:c.2015T>C (PHEX) MANE Select	NP_000435.3:p.Leu672Pro
NM_001282754.2:c.2015T>C (PHEX)	NP_001269683.1:p.Leu672Pro