Canonical Allele Identifier: CA412572273

Gene: PHEX

Linked Data

• dbSNP Id: rs1286071851
• gnomAD v2: X-22112110-G-A
• gnomAD v4: X-22093992-G-A
• COSMIC: COSM1467241
• MyVariant Identifiers: chrX:g.22112110G>A (hg19) ; chrX:g.22093992G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22093992G>A , CM000685.2:g.22093992G>A	GRCh38
NC_000023.10:g.22112110G>A , CM000685.1:g.22112110G>A	GRCh37
NC_000023.9:g.22022031G>A	NCBI36
NG_007563.2:g.66190G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1168G>A
ENST00000684143.1:c.739G>A	ENSP00000508264.1:p.Ala247Thr
ENST00000684745.1:n.416G>A
ENST00000379374.5:c.742G>A MANE Select	ENSP00000368682.4:p.Ala248Thr
ENST00000379374.4:c.742G>A	ENSP00000368682.4:p.Ala248Thr
ENST00000475778.1:n.15G>A
NM_000444.5:c.742G>A	NP_000435.3:p.Ala248Thr
NM_001282754.1:c.742G>A	NP_001269683.1:p.Ala248Thr
XM_011545533.1:c.-15G>A	XP_011543835.1:n.-15G>A
XM_011545534.1:c.-15G>A	XP_011543836.1:n.-15G>A
XM_011545535.1:c.742G>A	XP_011543837.1:p.Ala248Thr
XM_017029579.1:c.-15G>A	XP_016885068.1:n.-15G>A
XM_024452390.1:c.451G>A	XP_024308158.1:p.Ala151Thr
XR_001755695.1:n.1421G>A
NM_000444.6:c.742G>A MANE Select	NP_000435.3:p.Ala248Thr
NM_001282754.2:c.742G>A	NP_001269683.1:p.Ala248Thr