Canonical Allele Identifier: CA10368005

Gene: PHEX

Linked Data

• ClinVar Variation Id: 754008
• ClinVar RCV Id: RCV000931297 ; RCV002502845
• dbSNP Id: rs145224279
• ExAC: X:22065229 C / T
• gnomAD v2: X-22065229-C-T
• gnomAD v3: X-22047111-C-T
• gnomAD v4: X-22047111-C-T
• MyVariant Identifiers: chrX:g.22065229C>T (hg19) ; chrX:g.22047111C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047111C>T , CM000685.2:g.22047111C>T	GRCh38
NC_000023.10:g.22065229C>T , CM000685.1:g.22065229C>T	GRCh37
NC_000023.9:g.21975150C>T	NCBI36
NG_007563.2:g.19309C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.675C>T
ENST00000683214.1:n.544+13988C>T
ENST00000684143.1:c.249C>T	ENSP00000508264.1:p.Phe83=
ENST00000379374.5:c.249C>T MANE Select	ENSP00000368682.4:p.Phe83=
ENST00000379374.4:c.249C>T	ENSP00000368682.4:p.Phe83=
NM_000444.5:c.249C>T	NP_000435.3:p.Phe83=
NM_001282754.1:c.249C>T	NP_001269683.1:p.Phe83=
XM_011545535.1:c.249C>T	XP_011543837.1:p.Phe83=
XM_024452390.1:c.-43C>T	XP_024308158.1:n.-43C>T
XR_001755695.1:n.928C>T
NM_000444.6:c.249C>T MANE Select	NP_000435.3:p.Phe83=
NM_001282754.2:c.249C>T	NP_001269683.1:p.Phe83=