Canonical Allele Identifier: CA10368426

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22227609C>A , CM000685.2:g.22227609C>A	GRCh38
NC_000023.10:g.22245726C>A , CM000685.1:g.22245726C>A	GRCh37
NC_000023.9:g.22155647C>A	NCBI36
NG_007563.2:g.199806C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.2068C>A (PHEX) MANE Select	NP_000435.3:p.His690Asn
ENST00000379374.5:c.2068C>A (PHEX) MANE Select	ENSP00000368682.4:p.His690Asn
NM_000444.5:c.2068C>A (PHEX)	NP_000435.3:p.His690Asn
NM_001282754.1:c.2068C>A (PHEX)	NP_001269683.1:p.His690Asn
NM_001282754.2:c.2068C>A (PHEX)	NP_001269683.1:p.His690Asn
NR_073010.2:n.909G>T (PTCHD1-AS)
ENST00000379374.4:c.2068C>A (PHEX)	ENSP00000368682.4:p.His690Asn
ENST00000683162.1:c.622C>A (PHEX)	ENSP00000508059.1:p.His208Asn
ENST00000683289.1:c.622C>A (PHEX)	ENSP00000508195.1:p.His208Asn
ENST00000683917.1:n.852C>A (PHEX)
ENST00000684356.1:c.622C>A (PHEX)	ENSP00000507619.1:p.His208Asn
ENST00000684745.1:n.1742C>A (PHEX)
XM_011545533.1:c.1312C>A (PHEX)	XP_011543835.1:p.His438Asn
XM_011545534.1:c.1312C>A (PHEX)	XP_011543836.1:p.His438Asn
XM_011545536.1:c.961C>A (PHEX)	XP_011543838.1:p.His321Asn
XM_011545536.2:c.961C>A (PHEX)	XP_011543838.1:p.His321Asn
XM_017029579.1:c.1312C>A (PHEX)	XP_016885068.1:p.His438Asn
XM_024452390.1:c.1777C>A (PHEX)	XP_024308158.1:p.His593Asn
XR_001755695.1:n.2908C>A (PHEX)
XR_950533.1:n.326G>T
XR_950534.1:n.186G>T