Canonical Allele Identifier: CA412575452

Gene: PHEX PTCHD1-AS

Linked Data

• MyVariant Identifiers: chrX:g.22266014A>G (hg19) ; chrX:g.22247897A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247897A>G , CM000685.2:g.22247897A>G	GRCh38
NC_000023.10:g.22266014A>G , CM000685.1:g.22266014A>G	GRCh37
NC_000023.9:g.22175935A>G	NCBI36
NG_007563.2:g.220094A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*132A>G (PHEX)	ENSP00000508059.1:n.*132A>G
ENST00000683289.1:c.624+20286A>G (PHEX)	ENSP00000508195.1:n.624+20286A>G
ENST00000683917.1:n.978A>G (PHEX)
ENST00000684356.1:c.748A>G (PHEX)	ENSP00000507619.1:p.Asn250Asp
ENST00000684745.1:n.1868A>G (PHEX)
ENST00000379374.5:c.2194A>G (PHEX) MANE Select	ENSP00000368682.4:p.Asn732Asp
ENST00000379374.4:c.2194A>G (PHEX)	ENSP00000368682.4:p.Asn732Asp
NM_000444.5:c.2194A>G (PHEX)	NP_000435.3:p.Asn732Asp
NM_001282754.1:c.*29A>G (PHEX)	NP_001269683.1:n.*29A>G
XM_011545533.1:c.1438A>G (PHEX)	XP_011543835.1:p.Asn480Asp
XM_011545534.1:c.1438A>G (PHEX)	XP_011543836.1:p.Asn480Asp
XM_011545536.1:c.1087A>G (PHEX)	XP_011543838.1:p.Asn363Asp
XR_950533.1:n.140+6042T>C
XR_950534.1:n.127+6042T>C
NR_073010.2:n.850+6042T>C (PTCHD1-AS)
XM_011545536.2:c.1087A>G (PHEX)	XP_011543838.1:p.Asn363Asp
XM_017029579.1:c.1438A>G (PHEX)	XP_016885068.1:p.Asn480Asp
XM_024452390.1:c.1903A>G (PHEX)	XP_024308158.1:p.Asn635Asp
XR_001755695.1:n.3034A>G (PHEX)
NM_000444.6:c.2194A>G (PHEX) MANE Select	NP_000435.3:p.Asn732Asp
NM_001282754.2:c.*29A>G (PHEX)	NP_001269683.1:n.*29A>G