Canonical Allele Identifier: CA10368463

Gene: PHEX PTCHD1-AS

Linked Data

• dbSNP Id: rs372307955
• ExAC: X:22265983 T / G
• gnomAD v2: X-22265983-T-G
• gnomAD v4: X-22247866-T-G
• MyVariant Identifiers: chrX:g.22265983T>G (hg19) ; chrX:g.22247866T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247866T>G , CM000685.2:g.22247866T>G	GRCh38
NC_000023.10:g.22265983T>G , CM000685.1:g.22265983T>G	GRCh37
NC_000023.9:g.22175904T>G	NCBI36
NG_007563.2:g.220063T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000683162.1:c.*101T>G (PHEX)	ENSP00000508059.1:n.*101T>G
ENST00000683289.1:c.624+20255T>G (PHEX)	ENSP00000508195.1:n.624+20255T>G
ENST00000683917.1:n.947T>G (PHEX)
ENST00000684356.1:c.717T>G (PHEX)	ENSP00000507619.1:p.Ile239Met
ENST00000684745.1:n.1837T>G (PHEX)
ENST00000379374.5:c.2163T>G (PHEX) MANE Select	ENSP00000368682.4:p.Ile721Met
ENST00000379374.4:c.2163T>G (PHEX)	ENSP00000368682.4:p.Ile721Met
NM_000444.5:c.2163T>G (PHEX)	NP_000435.3:p.Ile721Met
NM_001282754.1:c.2086T>G (PHEX)	NP_001269683.1:p.Ter696Glu
XM_011545533.1:c.1407T>G (PHEX)	XP_011543835.1:p.Ile469Met
XM_011545534.1:c.1407T>G (PHEX)	XP_011543836.1:p.Ile469Met
XM_011545536.1:c.1056T>G (PHEX)	XP_011543838.1:p.Ile352Met
XR_950533.1:n.140+6073A>C
XR_950534.1:n.127+6073A>C
NR_073010.2:n.850+6073A>C (PTCHD1-AS)
XM_011545536.2:c.1056T>G (PHEX)	XP_011543838.1:p.Ile352Met
XM_017029579.1:c.1407T>G (PHEX)	XP_016885068.1:p.Ile469Met
XM_024452390.1:c.1872T>G (PHEX)	XP_024308158.1:p.Ile624Met
XR_001755695.1:n.3003T>G (PHEX)
NM_000444.6:c.2163T>G (PHEX) MANE Select	NP_000435.3:p.Ile721Met
NM_001282754.2:c.2086T>G (PHEX)	NP_001269683.1:p.Ter696Glu