Canonical Allele Identifier: CA2693303905

Gene: PHEX

Linked Data

• gnomAD v4: X-22032992-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22032992C>T , CM000685.2:g.22032992C>T	GRCh38
NC_000023.10:g.22051110C>T , CM000685.1:g.22051110C>T	GRCh37
NC_000023.9:g.21961031C>T	NCBI36
NG_007563.2:g.5190C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.413C>T
ENST00000683214.1:n.413C>T
ENST00000684143.1:c.-14C>T	ENSP00000508264.1:n.-14C>T
ENST00000379374.5:c.-14C>T MANE Select	ENSP00000368682.4:n.-14C>T
ENST00000379374.4:c.-14C>T	ENSP00000368682.4:n.-14C>T
NM_000444.5:c.-14C>T	NP_000435.3:n.-14C>T
NM_001282754.1:c.-14C>T	NP_001269683.1:n.-14C>T
XM_011545535.1:c.-14C>T	XP_011543837.1:n.-14C>T
XR_001755695.1:n.666C>T
NM_000444.6:c.-14C>T MANE Select	NP_000435.3:n.-14C>T
NM_001282754.2:c.-14C>T	NP_001269683.1:n.-14C>T