Canonical Allele Identifier: CA10368461

Gene: PHEX PTCHD1-AS

Linked Data

• dbSNP Id: rs191028600
• ExAC: X:22265973 A / C
• gnomAD v2: X-22265973-A-C
• gnomAD v4: X-22247856-A-C
• MyVariant Identifiers: chrX:g.22265973A>C (hg19) ; chrX:g.22247856A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247856A>C , CM000685.2:g.22247856A>C	GRCh38
NC_000023.10:g.22265973A>C , CM000685.1:g.22265973A>C	GRCh37
NC_000023.9:g.22175894A>C	NCBI36
NG_007563.2:g.220053A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*91A>C (PHEX)	ENSP00000508059.1:n.*91A>C
ENST00000683289.1:c.624+20245A>C (PHEX)	ENSP00000508195.1:n.624+20245A>C
ENST00000683917.1:n.937A>C (PHEX)
ENST00000684356.1:c.707A>C (PHEX)	ENSP00000507619.1:p.Asn236Thr
ENST00000684745.1:n.1827A>C (PHEX)
ENST00000379374.5:c.2153A>C (PHEX) MANE Select	ENSP00000368682.4:p.Asn718Thr
ENST00000379374.4:c.2153A>C (PHEX)	ENSP00000368682.4:p.Asn718Thr
NM_000444.5:c.2153A>C (PHEX)	NP_000435.3:p.Asn718Thr
NM_001282754.1:c.2076A>C (PHEX)	NP_001269683.1:p.Gln692His
XM_011545533.1:c.1397A>C (PHEX)	XP_011543835.1:p.Asn466Thr
XM_011545534.1:c.1397A>C (PHEX)	XP_011543836.1:p.Asn466Thr
XM_011545536.1:c.1046A>C (PHEX)	XP_011543838.1:p.Asn349Thr
XR_950533.1:n.140+6083T>G
XR_950534.1:n.127+6083T>G
NR_073010.2:n.850+6083T>G (PTCHD1-AS)
XM_011545536.2:c.1046A>C (PHEX)	XP_011543838.1:p.Asn349Thr
XM_017029579.1:c.1397A>C (PHEX)	XP_016885068.1:p.Asn466Thr
XM_024452390.1:c.1862A>C (PHEX)	XP_024308158.1:p.Asn621Thr
XR_001755695.1:n.2993A>C (PHEX)
NM_000444.6:c.2153A>C (PHEX) MANE Select	NP_000435.3:p.Asn718Thr
NM_001282754.2:c.2076A>C (PHEX)	NP_001269683.1:p.Gln692His