Canonical Allele Identifier: CA412573335

Gene: PHEX

Linked Data

• gnomAD v4: X-22114476-A-T
• MyVariant Identifiers: chrX:g.22132594A>T (hg19) ; chrX:g.22114476A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22114476A>T , CM000685.2:g.22114476A>T	GRCh38
NC_000023.10:g.22132594A>T , CM000685.1:g.22132594A>T	GRCh37
NC_000023.9:g.22042515A>T	NCBI36
NG_007563.2:g.86674A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684143.1:c.1189A>T	ENSP00000508264.1:p.Thr397Ser
ENST00000684745.1:n.866A>T
ENST00000379374.5:c.1192A>T MANE Select	ENSP00000368682.4:p.Thr398Ser
ENST00000379374.4:c.1192A>T	ENSP00000368682.4:p.Thr398Ser
NM_000444.5:c.1192A>T	NP_000435.3:p.Thr398Ser
NM_001282754.1:c.1192A>T	NP_001269683.1:p.Thr398Ser
XM_011545533.1:c.436A>T	XP_011543835.1:p.Thr146Ser
XM_011545534.1:c.436A>T	XP_011543836.1:p.Thr146Ser
XM_011545535.1:c.1192A>T	XP_011543837.1:p.Thr398Ser
XM_011545536.1:c.85A>T	XP_011543838.1:p.Thr29Ser
XM_011545536.2:c.85A>T	XP_011543838.1:p.Thr29Ser
XM_017029579.1:c.436A>T	XP_016885068.1:p.Thr146Ser
XM_024452390.1:c.901A>T	XP_024308158.1:p.Thr301Ser
XR_001755695.1:n.1871A>T
NM_000444.6:c.1192A>T MANE Select	NP_000435.3:p.Thr398Ser
NM_001282754.2:c.1192A>T	NP_001269683.1:p.Thr398Ser