Canonical Allele Identifier: CA412574728

Gene: PHEX

Linked Data

• gnomAD v4: X-22178274-T-C
• MyVariant Identifiers: chrX:g.22196391T>C (hg19) ; chrX:g.22178274T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178274T>C , CM000685.2:g.22178274T>C	GRCh38
NC_000023.10:g.22196391T>C , CM000685.1:g.22196391T>C	GRCh37
NC_000023.9:g.22106312T>C	NCBI36
NG_007563.2:g.150471T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.38T>C	ENSP00000508003.1:p.Ile13Thr
ENST00000683162.1:c.38T>C	ENSP00000508059.1:p.Ile13Thr
ENST00000683289.1:c.38T>C	ENSP00000508195.1:p.Ile13Thr
ENST00000683917.1:n.268T>C
ENST00000684356.1:c.38T>C	ENSP00000507619.1:p.Ile13Thr
ENST00000684745.1:n.1158T>C
ENST00000379374.5:c.1484T>C MANE Select	ENSP00000368682.4:p.Ile495Thr
ENST00000379374.4:c.1484T>C	ENSP00000368682.4:p.Ile495Thr
NM_000444.5:c.1484T>C	NP_000435.3:p.Ile495Thr
NM_001282754.1:c.1484T>C	NP_001269683.1:p.Ile495Thr
XM_011545533.1:c.728T>C	XP_011543835.1:p.Ile243Thr
XM_011545534.1:c.728T>C	XP_011543836.1:p.Ile243Thr
XM_011545536.1:c.377T>C	XP_011543838.1:p.Ile126Thr
XM_011545536.2:c.377T>C	XP_011543838.1:p.Ile126Thr
XM_017029579.1:c.728T>C	XP_016885068.1:p.Ile243Thr
XM_024452390.1:c.1193T>C	XP_024308158.1:p.Ile398Thr
XR_001755695.1:n.2324T>C
NM_000444.6:c.1484T>C MANE Select	NP_000435.3:p.Ile495Thr
NM_001282754.2:c.1484T>C	NP_001269683.1:p.Ile495Thr