Canonical Allele Identifier: CA2693304230

Gene: PHEX

Linked Data

• gnomAD v4: X-22047239-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047239C>T , CM000685.2:g.22047239C>T	GRCh38
NC_000023.10:g.22065357C>T , CM000685.1:g.22065357C>T	GRCh37
NC_000023.9:g.21975278C>T	NCBI36
NG_007563.2:g.19437C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.775+28C>T
ENST00000683214.1:n.544+14116C>T
ENST00000684143.1:c.349+28C>T	ENSP00000508264.1:n.349+28C>T
ENST00000379374.5:c.349+28C>T MANE Select	ENSP00000368682.4:n.349+28C>T
ENST00000379374.4:c.349+28C>T	ENSP00000368682.4:n.349+28C>T
NM_000444.5:c.349+28C>T	NP_000435.3:n.349+28C>T
NM_001282754.1:c.349+28C>T	NP_001269683.1:n.349+28C>T
XM_011545535.1:c.349+28C>T	XP_011543837.1:n.349+28C>T
XM_017029579.1:c.-94+28C>T	XP_016885068.1:n.-94+28C>T
XM_024452390.1:c.58+28C>T	XP_024308158.1:n.58+28C>T
XR_001755695.1:n.1028+28C>T
NM_000444.6:c.349+28C>T MANE Select	NP_000435.3:n.349+28C>T
NM_001282754.2:c.349+28C>T	NP_001269683.1:n.349+28C>T