Canonical Allele Identifier: CA2693304329

Gene: PHEX

Linked Data

• gnomAD v4: X-22076383-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22076383C>A , CM000685.2:g.22076383C>A	GRCh38
NC_000023.10:g.22094501C>A , CM000685.1:g.22094501C>A	GRCh37
NC_000023.9:g.22004422C>A	NCBI36
NG_007563.2:g.48581C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.776-5C>A
ENST00000683214.1:n.545-1093C>A
ENST00000684143.1:c.350-5C>A	ENSP00000508264.1:n.350-5C>A
ENST00000684745.1:n.27-5C>A
ENST00000379374.5:c.350-5C>A MANE Select	ENSP00000368682.4:n.350-5C>A
ENST00000379374.4:c.350-5C>A	ENSP00000368682.4:n.350-5C>A
NM_000444.5:c.350-5C>A	NP_000435.3:n.350-5C>A
NM_001282754.1:c.350-5C>A	NP_001269683.1:n.350-5C>A
XM_011545535.1:c.350-5C>A	XP_011543837.1:n.350-5C>A
XM_017029579.1:c.-93-14046C>A	XP_016885068.1:n.-93-14046C>A
XM_024452390.1:c.59-5C>A	XP_024308158.1:n.59-5C>A
XR_001755695.1:n.1029-5C>A
NM_000444.6:c.350-5C>A MANE Select	NP_000435.3:n.350-5C>A
NM_001282754.2:c.350-5C>A	NP_001269683.1:n.350-5C>A