Canonical Allele Identifier: CA412567512

Gene: PHEX

Linked Data

• ClinVar Variation Id: 1686023
• ClinVar RCV Id: RCV002250190
• dbSNP Id: rs2146987638
• MyVariant Identifiers: chrX:g.22065180T>A (hg19) ; chrX:g.22047062T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047062T>A , CM000685.2:g.22047062T>A	GRCh38
NC_000023.10:g.22065180T>A , CM000685.1:g.22065180T>A	GRCh37
NC_000023.9:g.21975101T>A	NCBI36
NG_007563.2:g.19260T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.626T>A
ENST00000683214.1:n.544+13939T>A
ENST00000684143.1:c.200T>A	ENSP00000508264.1:p.Leu67Ter
ENST00000379374.5:c.200T>A MANE Select	ENSP00000368682.4:p.Leu67Ter
ENST00000379374.4:c.200T>A	ENSP00000368682.4:p.Leu67Ter
NM_000444.5:c.200T>A	NP_000435.3:p.Leu67Ter
NM_001282754.1:c.200T>A	NP_001269683.1:p.Leu67Ter
XM_011545535.1:c.200T>A	XP_011543837.1:p.Leu67Ter
XM_024452390.1:c.-92T>A	XP_024308158.1:n.-92T>A
XR_001755695.1:n.879T>A
NM_000444.6:c.200T>A MANE Select	NP_000435.3:p.Leu67Ter
NM_001282754.2:c.200T>A	NP_001269683.1:p.Leu67Ter