Canonical Allele Identifier: CA10368138

Gene: PHEX

Linked Data

• ClinVar Variation Id: 499456
• ClinVar RCV Id: RCV000595511 ; RCV000887315 ; RCV001166522 ; RCV003952971
• dbSNP Id: rs142755818
• ExAC: X:22115126 C / T
• gnomAD v2: X-22115126-C-T
• gnomAD v3: X-22097008-C-T
• gnomAD v4: X-22097008-C-T
• MyVariant Identifiers: chrX:g.22115126C>T (hg19) ; chrX:g.22097008C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22097008C>T , CM000685.2:g.22097008C>T	GRCh38
NC_000023.10:g.22115126C>T , CM000685.1:g.22115126C>T	GRCh37
NC_000023.9:g.22025047C>T	NCBI36
NG_007563.2:g.69206C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1329C>T
ENST00000684143.1:c.900C>T	ENSP00000508264.1:p.Asn300=
ENST00000684745.1:n.577C>T
ENST00000379374.5:c.903C>T MANE Select	ENSP00000368682.4:p.Asn301=
ENST00000379374.4:c.903C>T	ENSP00000368682.4:p.Asn301=
ENST00000475778.1:n.176C>T
NM_000444.5:c.903C>T	NP_000435.3:p.Asn301=
NM_001282754.1:c.903C>T	NP_001269683.1:p.Asn301=
XM_011545533.1:c.147C>T	XP_011543835.1:p.Asn49=
XM_011545534.1:c.147C>T	XP_011543836.1:p.Asn49=
XM_011545535.1:c.903C>T	XP_011543837.1:p.Asn301=
XM_017029579.1:c.147C>T	XP_016885068.1:p.Asn49=
XM_024452390.1:c.612C>T	XP_024308158.1:p.Asn204=
XR_001755695.1:n.1582C>T
NM_000444.6:c.903C>T MANE Select	NP_000435.3:p.Asn301=
NM_001282754.2:c.903C>T	NP_001269683.1:p.Asn301=