Canonical Allele Identifier: CA327522039

Gene: PHEX

Linked Data

• dbSNP Id: rs911991850
• gnomAD v3: X-22093798-C-T
• gnomAD v4: X-22093798-C-T
• MyVariant Identifiers: chrX:g.22111916C>T (hg19) ; chrX:g.22093798C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22093798C>T , CM000685.2:g.22093798C>T	GRCh38
NC_000023.10:g.22111916C>T , CM000685.1:g.22111916C>T	GRCh37
NC_000023.9:g.22021837C>T	NCBI36
NG_007563.2:g.65996C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1159-185C>T
ENST00000684143.1:c.730-185C>T	ENSP00000508264.1:n.730-185C>T
ENST00000684745.1:n.407-185C>T
ENST00000379374.5:c.733-185C>T MANE Select	ENSP00000368682.4:n.733-185C>T
ENST00000379374.4:c.733-185C>T	ENSP00000368682.4:n.733-185C>T
ENST00000475778.1:n.6-185C>T
NM_000444.5:c.733-185C>T	NP_000435.3:n.733-185C>T
NM_001282754.1:c.733-185C>T	NP_001269683.1:n.733-185C>T
XM_011545533.1:c.-24-185C>T	XP_011543835.1:n.-24-185C>T
XM_011545534.1:c.-24-185C>T	XP_011543836.1:n.-24-185C>T
XM_011545535.1:c.733-185C>T	XP_011543837.1:n.733-185C>T
XM_017029579.1:c.-24-185C>T	XP_016885068.1:n.-24-185C>T
XM_024452390.1:c.442-185C>T	XP_024308158.1:n.442-185C>T
XR_001755695.1:n.1412-185C>T
NM_000444.6:c.733-185C>T MANE Select	NP_000435.3:n.733-185C>T
NM_001282754.2:c.733-185C>T	NP_001269683.1:n.733-185C>T