Canonical Allele Identifier: CA412574153

Gene: PHEX PTCHD1-AS

Linked Data

• gnomAD v4: X-22226456-G-A
• MyVariant Identifiers: chrX:g.22244573G>A (hg19) ; chrX:g.22226456G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22226456G>A , CM000685.2:g.22226456G>A	GRCh38
NC_000023.10:g.22244573G>A , CM000685.1:g.22244573G>A	GRCh37
NC_000023.9:g.22154494G>A	NCBI36
NG_007563.2:g.198653G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.467G>A (PHEX)	ENSP00000508003.1:p.Arg156Lys
ENST00000683162.1:c.467G>A (PHEX)	ENSP00000508059.1:p.Arg156Lys
ENST00000683289.1:c.467G>A (PHEX)	ENSP00000508195.1:p.Arg156Lys
ENST00000683917.1:n.697G>A (PHEX)
ENST00000684356.1:c.467G>A (PHEX)	ENSP00000507619.1:p.Arg156Lys
ENST00000684745.1:n.1587G>A (PHEX)
ENST00000379374.5:c.1913G>A (PHEX) MANE Select	ENSP00000368682.4:p.Arg638Lys
ENST00000379374.4:c.1913G>A (PHEX)	ENSP00000368682.4:p.Arg638Lys
NM_000444.5:c.1913G>A (PHEX)	NP_000435.3:p.Arg638Lys
NM_001282754.1:c.1913G>A (PHEX)	NP_001269683.1:p.Arg638Lys
XM_011545533.1:c.1157G>A (PHEX)	XP_011543835.1:p.Arg386Lys
XM_011545534.1:c.1157G>A (PHEX)	XP_011543836.1:p.Arg386Lys
XM_011545536.1:c.806G>A (PHEX)	XP_011543838.1:p.Arg269Lys
XR_950534.1:n.326-433C>T
NR_073010.2:n.1048+1014C>T (PTCHD1-AS)
XM_011545536.2:c.806G>A (PHEX)	XP_011543838.1:p.Arg269Lys
XM_017029579.1:c.1157G>A (PHEX)	XP_016885068.1:p.Arg386Lys
XM_024452390.1:c.1622G>A (PHEX)	XP_024308158.1:p.Arg541Lys
XR_001755695.1:n.2753G>A (PHEX)
NM_000444.6:c.1913G>A (PHEX) MANE Select	NP_000435.3:p.Arg638Lys
NM_001282754.2:c.1913G>A (PHEX)	NP_001269683.1:p.Arg638Lys