Canonical Allele Identifier: CA10368229

Gene: PHEX

Linked Data

• ClinVar Variation Id: 733250
• ClinVar RCV Id: RCV000908505 ; RCV002495488
• dbSNP Id: rs77710864
• ExAC: X:22151720 G / A
• gnomAD v2: X-22151720-G-A
• gnomAD v3: X-22133603-G-A
• gnomAD v4: X-22133603-G-A
• COSMIC: COSM6299383 ; COSM6299384
• MyVariant Identifiers: chrX:g.22151720G>A (hg19) ; chrX:g.22133603G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22133603G>A , CM000685.2:g.22133603G>A	GRCh38
NC_000023.10:g.22151720G>A , CM000685.1:g.22151720G>A	GRCh37
NC_000023.9:g.22061641G>A	NCBI36
NG_007563.2:g.105800G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684745.1:n.1057G>A
ENST00000379374.5:c.1383G>A MANE Select	ENSP00000368682.4:p.Thr461=
ENST00000379374.4:c.1383G>A	ENSP00000368682.4:p.Thr461=
NM_000444.5:c.1383G>A	NP_000435.3:p.Thr461=
NM_001282754.1:c.1383G>A	NP_001269683.1:p.Thr461=
XM_011545533.1:c.627G>A	XP_011543835.1:p.Thr209=
XM_011545534.1:c.627G>A	XP_011543836.1:p.Thr209=
XM_011545535.1:c.1383G>A	XP_011543837.1:p.Thr461=
XM_011545536.1:c.276G>A	XP_011543838.1:p.Thr92=
XM_011545536.2:c.276G>A	XP_011543838.1:p.Thr92=
XM_017029579.1:c.627G>A	XP_016885068.1:p.Thr209=
XM_024452390.1:c.1092G>A	XP_024308158.1:p.Thr364=
XR_001755695.1:n.2062G>A
NM_000444.6:c.1383G>A MANE Select	NP_000435.3:p.Thr461=
NM_001282754.2:c.1383G>A	NP_001269683.1:p.Thr461=