Canonical Allele Identifier: CA2693306124

Gene: PHEX

Linked Data

• gnomAD v4: X-22133658-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22133658C>A , CM000685.2:g.22133658C>A	GRCh38
NC_000023.10:g.22151775C>A , CM000685.1:g.22151775C>A	GRCh37
NC_000023.9:g.22061696C>A	NCBI36
NG_007563.2:g.105855C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684745.1:n.1078+34C>A
ENST00000379374.5:c.1404+34C>A MANE Select	ENSP00000368682.4:n.1404+34C>A
ENST00000379374.4:c.1404+34C>A	ENSP00000368682.4:n.1404+34C>A
NM_000444.5:c.1404+34C>A	NP_000435.3:n.1404+34C>A
NM_001282754.1:c.1404+34C>A	NP_001269683.1:n.1404+34C>A
XM_011545533.1:c.648+34C>A	XP_011543835.1:n.648+34C>A
XM_011545534.1:c.648+34C>A	XP_011543836.1:n.648+34C>A
XM_011545535.1:c.1404+34C>A	XP_011543837.1:n.1404+34C>A
XM_011545536.1:c.297+34C>A	XP_011543838.1:n.297+34C>A
XM_011545536.2:c.297+34C>A	XP_011543838.1:n.297+34C>A
XM_017029579.1:c.648+34C>A	XP_016885068.1:n.648+34C>A
XM_024452390.1:c.1113+34C>A	XP_024308158.1:n.1113+34C>A
XR_001755695.1:n.2083+34C>A
NM_000444.6:c.1404+34C>A MANE Select	NP_000435.3:n.1404+34C>A
NM_001282754.2:c.1404+34C>A	NP_001269683.1:n.1404+34C>A