Canonical Allele Identifier: CA412567730

Gene: PHEX

Linked Data

• dbSNP Id: rs1292664422
• gnomAD v2: X-22065275-C-T
• gnomAD v4: X-22047157-C-T
• MyVariant Identifiers: chrX:g.22065275C>T (hg19) ; chrX:g.22047157C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047157C>T , CM000685.2:g.22047157C>T	GRCh38
NC_000023.10:g.22065275C>T , CM000685.1:g.22065275C>T	GRCh37
NC_000023.9:g.21975196C>T	NCBI36
NG_007563.2:g.19355C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.721C>T
ENST00000683214.1:n.544+14034C>T
ENST00000684143.1:c.295C>T	ENSP00000508264.1:p.Pro99Ser
ENST00000379374.5:c.295C>T MANE Select	ENSP00000368682.4:p.Pro99Ser
ENST00000379374.4:c.295C>T	ENSP00000368682.4:p.Pro99Ser
NM_000444.5:c.295C>T	NP_000435.3:p.Pro99Ser
NM_001282754.1:c.295C>T	NP_001269683.1:p.Pro99Ser
XM_011545535.1:c.295C>T	XP_011543837.1:p.Pro99Ser
XM_024452390.1:c.4C>T	XP_024308158.1:p.Pro2Ser
XR_001755695.1:n.974C>T
NM_000444.6:c.295C>T MANE Select	NP_000435.3:p.Pro99Ser
NM_001282754.2:c.295C>T	NP_001269683.1:p.Pro99Ser