Canonical Allele Identifier: CA412575571

Gene: PHEX PTCHD1-AS

Linked Data

• MyVariant Identifiers: chrX:g.22266067G>C (hg19) ; chrX:g.22247950G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247950G>C , CM000685.2:g.22247950G>C	GRCh38
NC_000023.10:g.22266067G>C , CM000685.1:g.22266067G>C	GRCh37
NC_000023.9:g.22175988G>C	NCBI36
NG_007563.2:g.220147G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*185G>C (PHEX)	ENSP00000508059.1:n.*185G>C
ENST00000683289.1:c.624+20339G>C (PHEX)	ENSP00000508195.1:n.624+20339G>C
ENST00000683917.1:n.1031G>C (PHEX)
ENST00000684356.1:c.801G>C (PHEX)	ENSP00000507619.1:p.Trp267Cys
ENST00000684745.1:n.1921G>C (PHEX)
ENST00000379374.5:c.2247G>C (PHEX) MANE Select	ENSP00000368682.4:p.Trp749Cys
ENST00000379374.4:c.2247G>C (PHEX)	ENSP00000368682.4:p.Trp749Cys
NM_000444.5:c.2247G>C (PHEX)	NP_000435.3:p.Trp749Cys
NM_001282754.1:c.*82G>C (PHEX)	NP_001269683.1:n.*82G>C
XM_011545533.1:c.1491G>C (PHEX)	XP_011543835.1:p.Trp497Cys
XM_011545534.1:c.1491G>C (PHEX)	XP_011543836.1:p.Trp497Cys
XM_011545536.1:c.1140G>C (PHEX)	XP_011543838.1:p.Trp380Cys
XR_950533.1:n.140+5989C>G
XR_950534.1:n.127+5989C>G
NR_073010.2:n.850+5989C>G (PTCHD1-AS)
XM_011545536.2:c.1140G>C (PHEX)	XP_011543838.1:p.Trp380Cys
XM_017029579.1:c.1491G>C (PHEX)	XP_016885068.1:p.Trp497Cys
XM_024452390.1:c.1956G>C (PHEX)	XP_024308158.1:p.Trp652Cys
XR_001755695.1:n.3087G>C (PHEX)
NM_000444.6:c.2247G>C (PHEX) MANE Select	NP_000435.3:p.Trp749Cys
NM_001282754.2:c.*82G>C (PHEX)	NP_001269683.1:n.*82G>C