Canonical Allele Identifier: CA10368031

Gene: PHEX

Linked Data

• ClinVar Variation Id: 1919559
• ClinVar RCV Id: RCV002594882
• dbSNP Id: rs140678356
• ExAC: X:22094575 C / T
• gnomAD v2: X-22094575-C-T
• gnomAD v3: X-22076457-C-T
• gnomAD v4: X-22076457-C-T
• MyVariant Identifiers: chrX:g.22094575C>T (hg19) ; chrX:g.22076457C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22076457C>T , CM000685.2:g.22076457C>T	GRCh38
NC_000023.10:g.22094575C>T , CM000685.1:g.22094575C>T	GRCh37
NC_000023.9:g.22004496C>T	NCBI36
NG_007563.2:g.48655C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.845C>T
ENST00000683214.1:n.545-1019C>T
ENST00000684143.1:c.419C>T	ENSP00000508264.1:p.Ser140Leu
ENST00000684745.1:n.96C>T
ENST00000379374.5:c.419C>T MANE Select	ENSP00000368682.4:p.Ser140Leu
ENST00000379374.4:c.419C>T	ENSP00000368682.4:p.Ser140Leu
NM_000444.5:c.419C>T	NP_000435.3:p.Ser140Leu
NM_001282754.1:c.419C>T	NP_001269683.1:p.Ser140Leu
XM_011545535.1:c.419C>T	XP_011543837.1:p.Ser140Leu
XM_017029579.1:c.-93-13972C>T	XP_016885068.1:n.-93-13972C>T
XM_024452390.1:c.128C>T	XP_024308158.1:p.Ser43Leu
XR_001755695.1:n.1098C>T
NM_000444.6:c.419C>T MANE Select	NP_000435.3:p.Ser140Leu
NM_001282754.2:c.419C>T	NP_001269683.1:p.Ser140Leu