Canonical Allele Identifier: CA515431797

Gene: PHEX

Linked Data

• ClinVar Variation Id: 2120978
• ClinVar RCV Id: RCV003025358
• dbSNP Id: rs1440858200
• gnomAD v3: X-22178290-C-T
• gnomAD v4: X-22178290-C-T
• MyVariant Identifiers: chrX:g.22196407C>T (hg19) ; chrX:g.22178290C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178290C>T , CM000685.2:g.22178290C>T	GRCh38
NC_000023.10:g.22196407C>T , CM000685.1:g.22196407C>T	GRCh37
NC_000023.9:g.22106328C>T	NCBI36
NG_007563.2:g.150487C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682888.1:c.54C>T	ENSP00000508003.1:p.Ala18=
ENST00000683162.1:c.54C>T	ENSP00000508059.1:p.Ala18=
ENST00000683289.1:c.54C>T	ENSP00000508195.1:p.Ala18=
ENST00000683917.1:n.284C>T
ENST00000684356.1:c.54C>T	ENSP00000507619.1:p.Ala18=
ENST00000684745.1:n.1174C>T
ENST00000379374.5:c.1500C>T MANE Select	ENSP00000368682.4:p.Ala500=
ENST00000379374.4:c.1500C>T	ENSP00000368682.4:p.Ala500=
NM_000444.5:c.1500C>T	NP_000435.3:p.Ala500=
NM_001282754.1:c.1500C>T	NP_001269683.1:p.Ala500=
XM_011545533.1:c.744C>T	XP_011543835.1:p.Ala248=
XM_011545534.1:c.744C>T	XP_011543836.1:p.Ala248=
XM_011545536.1:c.393C>T	XP_011543838.1:p.Ala131=
XM_011545536.2:c.393C>T	XP_011543838.1:p.Ala131=
XM_017029579.1:c.744C>T	XP_016885068.1:p.Ala248=
XM_024452390.1:c.1209C>T	XP_024308158.1:p.Ala403=
XR_001755695.1:n.2340C>T
NM_000444.6:c.1500C>T MANE Select	NP_000435.3:p.Ala500=
NM_001282754.2:c.1500C>T	NP_001269683.1:p.Ala500=