Canonical Allele Identifier: CA640418149

Gene: PHEX PTCHD1-AS

Linked Data

• dbSNP Id: rs754974866
• gnomAD v2: X-22266071-C-G
• gnomAD v4: X-22247954-C-G
• MyVariant Identifiers: chrX:g.22266071C>G (hg19) ; chrX:g.22247954C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247954C>G , CM000685.2:g.22247954C>G	GRCh38
NC_000023.10:g.22266071C>G , CM000685.1:g.22266071C>G	GRCh37
NC_000023.9:g.22175992C>G	NCBI36
NG_007563.2:g.220151C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*189C>G (PHEX)	ENSP00000508059.1:n.*189C>G
ENST00000683289.1:c.624+20343C>G (PHEX)	ENSP00000508195.1:n.624+20343C>G
ENST00000683917.1:n.1035C>G (PHEX)
ENST00000684356.1:c.*1C>G (PHEX)	ENSP00000507619.1:n.*1C>G
ENST00000684745.1:n.1925C>G (PHEX)
ENST00000379374.5:c.*1C>G (PHEX) MANE Select	ENSP00000368682.4:n.*1C>G
ENST00000379374.4:c.*1C>G (PHEX)	ENSP00000368682.4:n.*1C>G
NM_000444.5:c.*1C>G (PHEX)	NP_000435.3:n.*1C>G
NM_001282754.1:c.*86C>G (PHEX)	NP_001269683.1:n.*86C>G
XM_011545533.1:c.*1C>G (PHEX)	XP_011543835.1:n.*1C>G
XM_011545534.1:c.*1C>G (PHEX)	XP_011543836.1:n.*1C>G
XM_011545536.1:c.*1C>G (PHEX)	XP_011543838.1:n.*1C>G
XR_950533.1:n.140+5985G>C
XR_950534.1:n.127+5985G>C
NR_073010.2:n.850+5985G>C (PTCHD1-AS)
XM_011545536.2:c.*1C>G (PHEX)	XP_011543838.1:n.*1C>G
XM_017029579.1:c.*1C>G (PHEX)	XP_016885068.1:n.*1C>G
XM_024452390.1:c.*1C>G (PHEX)	XP_024308158.1:n.*1C>G
XR_001755695.1:n.3091C>G (PHEX)
NM_000444.6:c.*1C>G (PHEX) MANE Select	NP_000435.3:n.*1C>G
NM_001282754.2:c.*86C>G (PHEX)	NP_001269683.1:n.*86C>G