Canonical Allele Identifier: CA1131569984

Gene: PHEX PTCHD1-AS

Linked Data

• dbSNP Id: rs1934970542
• gnomAD v3: X-22212784-C-A
• gnomAD v4: X-22212784-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22212784C>A , CM000685.2:g.22212784C>A	GRCh38
NC_000023.10:g.22230901C>A , CM000685.1:g.22230901C>A	GRCh37
NC_000023.9:g.22140822C>A	NCBI36
NG_007563.2:g.184981C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682888.1:c.200-120C>A (PHEX)	ENSP00000508003.1:n.200-120C>A
ENST00000683162.1:c.200-120C>A (PHEX)	ENSP00000508059.1:n.200-120C>A
ENST00000683289.1:c.200-120C>A (PHEX)	ENSP00000508195.1:n.200-120C>A
ENST00000683917.1:n.430-120C>A (PHEX)
ENST00000684356.1:c.200-120C>A (PHEX)	ENSP00000507619.1:n.200-120C>A
ENST00000684745.1:n.1320-120C>A (PHEX)
ENST00000379374.5:c.1646-120C>A (PHEX) MANE Select	ENSP00000368682.4:n.1646-120C>A
ENST00000379374.4:c.1646-120C>A (PHEX)	ENSP00000368682.4:n.1646-120C>A
NM_000444.5:c.1646-120C>A (PHEX)	NP_000435.3:n.1646-120C>A
NM_001282754.1:c.1646-120C>A (PHEX)	NP_001269683.1:n.1646-120C>A
XM_011545533.1:c.890-120C>A (PHEX)	XP_011543835.1:n.890-120C>A
XM_011545534.1:c.890-120C>A (PHEX)	XP_011543836.1:n.890-120C>A
XM_011545536.1:c.539-120C>A (PHEX)	XP_011543838.1:n.539-120C>A
NR_073010.2:n.1049-10014G>T (PTCHD1-AS)
XM_011545536.2:c.539-120C>A (PHEX)	XP_011543838.1:n.539-120C>A
XM_017029579.1:c.890-120C>A (PHEX)	XP_016885068.1:n.890-120C>A
XM_024452390.1:c.1355-120C>A (PHEX)	XP_024308158.1:n.1355-120C>A
XR_001755695.1:n.2486-120C>A (PHEX)
NM_000444.6:c.1646-120C>A (PHEX) MANE Select	NP_000435.3:n.1646-120C>A
NM_001282754.2:c.1646-120C>A (PHEX)	NP_001269683.1:n.1646-120C>A