Canonical Allele Identifier: CA10368464

Gene: PHEX PTCHD1-AS

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000683162.1:c.*101T>C (PHEX)	ENSP00000508059.1:n.*101T>C
ENST00000683289.1:c.624+20255T>C (PHEX)	ENSP00000508195.1:n.624+20255T>C
ENST00000683917.1:n.947T>C (PHEX)
ENST00000684356.1:c.717T>C (PHEX)	ENSP00000507619.1:p.Ile239=
ENST00000684745.1:n.1837T>C (PHEX)
ENST00000379374.5:c.2163T>C (PHEX) MANE Select	ENSP00000368682.4:p.Ile721=
ENST00000379374.4:c.2163T>C (PHEX)	ENSP00000368682.4:p.Ile721=
NM_000444.5:c.2163T>C (PHEX)	NP_000435.3:p.Ile721=
NM_001282754.1:c.2086T>C (PHEX)	NP_001269683.1:p.Ter696Gln
XM_011545533.1:c.1407T>C (PHEX)	XP_011543835.1:p.Ile469=
XM_011545534.1:c.1407T>C (PHEX)	XP_011543836.1:p.Ile469=
XM_011545536.1:c.1056T>C (PHEX)	XP_011543838.1:p.Ile352=
XR_950533.1:n.140+6073A>G
XR_950534.1:n.127+6073A>G
NR_073010.2:n.850+6073A>G (PTCHD1-AS)
XM_011545536.2:c.1056T>C (PHEX)	XP_011543838.1:p.Ile352=
XM_017029579.1:c.1407T>C (PHEX)	XP_016885068.1:p.Ile469=
XM_024452390.1:c.1872T>C (PHEX)	XP_024308158.1:p.Ile624=
XR_001755695.1:n.3003T>C (PHEX)
NM_000444.6:c.2163T>C (PHEX) MANE Select	NP_000435.3:p.Ile721=
NM_001282754.2:c.2086T>C (PHEX)	NP_001269683.1:p.Ter696Gln