Canonical Allele Identifier: CA412567676

Gene: PHEX

Linked Data

• dbSNP Id: rs1927576811
• gnomAD v4: X-22047134-A-G
• MyVariant Identifiers: chrX:g.22065252A>G (hg19) ; chrX:g.22047134A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047134A>G , CM000685.2:g.22047134A>G	GRCh38
NC_000023.10:g.22065252A>G , CM000685.1:g.22065252A>G	GRCh37
NC_000023.9:g.21975173A>G	NCBI36
NG_007563.2:g.19332A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.698A>G
ENST00000683214.1:n.544+14011A>G
ENST00000684143.1:c.272A>G	ENSP00000508264.1:p.Asn91Ser
ENST00000379374.5:c.272A>G MANE Select	ENSP00000368682.4:p.Asn91Ser
ENST00000379374.4:c.272A>G	ENSP00000368682.4:p.Asn91Ser
NM_000444.5:c.272A>G	NP_000435.3:p.Asn91Ser
NM_001282754.1:c.272A>G	NP_001269683.1:p.Asn91Ser
XM_011545535.1:c.272A>G	XP_011543837.1:p.Asn91Ser
XM_024452390.1:c.-20A>G	XP_024308158.1:n.-20A>G
XR_001755695.1:n.951A>G
NM_000444.6:c.272A>G MANE Select	NP_000435.3:p.Asn91Ser
NM_001282754.2:c.272A>G	NP_001269683.1:p.Asn91Ser