Canonical Allele Identifier: CA10368223

Gene: PHEX

Linked Data

• ClinVar Variation Id: 2159886
• ClinVar RCV Id: RCV003073055
• dbSNP Id: rs769336836
• ExAC: X:22151660 C / T
• gnomAD v2: X-22151660-C-T
• gnomAD v4: X-22133543-C-T
• COSMIC: COSM6473791 ; COSM6473792
• MyVariant Identifiers: chrX:g.22151660C>T (hg19) ; chrX:g.22133543C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22133543C>T , CM000685.2:g.22133543C>T	GRCh38
NC_000023.10:g.22151660C>T , CM000685.1:g.22151660C>T	GRCh37
NC_000023.9:g.22061581C>T	NCBI36
NG_007563.2:g.105740C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684745.1:n.997C>T
ENST00000379374.5:c.1323C>T MANE Select	ENSP00000368682.4:p.Gly441=
ENST00000379374.4:c.1323C>T	ENSP00000368682.4:p.Gly441=
NM_000444.5:c.1323C>T	NP_000435.3:p.Gly441=
NM_001282754.1:c.1323C>T	NP_001269683.1:p.Gly441=
XM_011545533.1:c.567C>T	XP_011543835.1:p.Gly189=
XM_011545534.1:c.567C>T	XP_011543836.1:p.Gly189=
XM_011545535.1:c.1323C>T	XP_011543837.1:p.Gly441=
XM_011545536.1:c.216C>T	XP_011543838.1:p.Gly72=
XM_011545536.2:c.216C>T	XP_011543838.1:p.Gly72=
XM_017029579.1:c.567C>T	XP_016885068.1:p.Gly189=
XM_024452390.1:c.1032C>T	XP_024308158.1:p.Gly344=
XR_001755695.1:n.2002C>T
NM_000444.6:c.1323C>T MANE Select	NP_000435.3:p.Gly441=
NM_001282754.2:c.1323C>T	NP_001269683.1:p.Gly441=