Canonical Allele Identifier: CA515423649

Gene: PHEX

Linked Data

• gnomAD v4: X-22093997-T-C
• MyVariant Identifiers: chrX:g.22112115T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22093997T>C , CM000685.2:g.22093997T>C	GRCh38
NC_000023.10:g.22112115T>C , CM000685.1:g.22112115T>C	GRCh37
NC_000023.9:g.22022036T>C	NCBI36
NG_007563.2:g.66195T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1173T>C
ENST00000684143.1:c.744T>C	ENSP00000508264.1:p.Leu248=
ENST00000684745.1:n.421T>C
ENST00000379374.5:c.747T>C MANE Select	ENSP00000368682.4:p.Leu249=
ENST00000379374.4:c.747T>C	ENSP00000368682.4:p.Leu249=
ENST00000475778.1:n.20T>C
NM_000444.5:c.747T>C	NP_000435.3:p.Leu249=
NM_001282754.1:c.747T>C	NP_001269683.1:p.Leu249=
XM_011545533.1:c.-10T>C	XP_011543835.1:n.-10T>C
XM_011545534.1:c.-10T>C	XP_011543836.1:n.-10T>C
XM_011545535.1:c.747T>C	XP_011543837.1:p.Leu249=
XM_017029579.1:c.-10T>C	XP_016885068.1:n.-10T>C
XM_024452390.1:c.456T>C	XP_024308158.1:p.Leu152=
XR_001755695.1:n.1426T>C
NM_000444.6:c.747T>C MANE Select	NP_000435.3:p.Leu249=
NM_001282754.2:c.747T>C	NP_001269683.1:p.Leu249=