Canonical Allele Identifier: CA412574287

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 2169635
• ClinVar RCV Id: RCV003084927
• MyVariant Identifiers: chrX:g.22245627T>C (hg19) ; chrX:g.22227510T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22227510T>C , CM000685.2:g.22227510T>C	GRCh38
NC_000023.10:g.22245627T>C , CM000685.1:g.22245627T>C	GRCh37
NC_000023.9:g.22155548T>C	NCBI36
NG_007563.2:g.199707T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000683162.1:c.523T>C (PHEX)	ENSP00000508059.1:p.Tyr175His
ENST00000683289.1:c.523T>C (PHEX)	ENSP00000508195.1:p.Tyr175His
ENST00000683917.1:n.753T>C (PHEX)
ENST00000684356.1:c.523T>C (PHEX)	ENSP00000507619.1:p.Tyr175His
ENST00000684745.1:n.1643T>C (PHEX)
ENST00000379374.5:c.1969T>C (PHEX) MANE Select	ENSP00000368682.4:p.Tyr657His
ENST00000379374.4:c.1969T>C (PHEX)	ENSP00000368682.4:p.Tyr657His
NM_000444.5:c.1969T>C (PHEX)	NP_000435.3:p.Tyr657His
NM_001282754.1:c.1969T>C (PHEX)	NP_001269683.1:p.Tyr657His
XM_011545533.1:c.1213T>C (PHEX)	XP_011543835.1:p.Tyr405His
XM_011545534.1:c.1213T>C (PHEX)	XP_011543836.1:p.Tyr405His
XM_011545536.1:c.862T>C (PHEX)	XP_011543838.1:p.Tyr288His
XR_950534.1:n.285A>G
NR_073010.2:n.1008A>G (PTCHD1-AS)
XM_011545536.2:c.862T>C (PHEX)	XP_011543838.1:p.Tyr288His
XM_017029579.1:c.1213T>C (PHEX)	XP_016885068.1:p.Tyr405His
XM_024452390.1:c.1678T>C (PHEX)	XP_024308158.1:p.Tyr560His
XR_001755695.1:n.2809T>C (PHEX)
NM_000444.6:c.1969T>C (PHEX) MANE Select	NP_000435.3:p.Tyr657His
NM_001282754.2:c.1969T>C (PHEX)	NP_001269683.1:p.Tyr657His