Canonical Allele Identifier: CA412572549

Gene: PHEX

Linked Data

• gnomAD v4: X-22096964-C-A
• MyVariant Identifiers: chrX:g.22115082C>A (hg19) ; chrX:g.22096964C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22096964C>A , CM000685.2:g.22096964C>A	GRCh38
NC_000023.10:g.22115082C>A , CM000685.1:g.22115082C>A	GRCh37
NC_000023.9:g.22025003C>A	NCBI36
NG_007563.2:g.69162C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1285C>A
ENST00000684143.1:c.856C>A	ENSP00000508264.1:p.Pro286Thr
ENST00000684745.1:n.533C>A
ENST00000379374.5:c.859C>A MANE Select	ENSP00000368682.4:p.Pro287Thr
ENST00000379374.4:c.859C>A	ENSP00000368682.4:p.Pro287Thr
ENST00000475778.1:n.132C>A
NM_000444.5:c.859C>A	NP_000435.3:p.Pro287Thr
NM_001282754.1:c.859C>A	NP_001269683.1:p.Pro287Thr
XM_011545533.1:c.103C>A	XP_011543835.1:p.Pro35Thr
XM_011545534.1:c.103C>A	XP_011543836.1:p.Pro35Thr
XM_011545535.1:c.859C>A	XP_011543837.1:p.Pro287Thr
XM_017029579.1:c.103C>A	XP_016885068.1:p.Pro35Thr
XM_024452390.1:c.568C>A	XP_024308158.1:p.Pro190Thr
XR_001755695.1:n.1538C>A
NM_000444.6:c.859C>A MANE Select	NP_000435.3:p.Pro287Thr
NM_001282754.2:c.859C>A	NP_001269683.1:p.Pro287Thr