Canonical Allele Identifier: CA640414284

Gene: PHEX

Linked Data

• dbSNP Id: rs1485360122
• gnomAD v2: X-22094671-T-G
• gnomAD v3: X-22076553-T-G
• gnomAD v4: X-22076553-T-G
• MyVariant Identifiers: chrX:g.22094671T>G (hg19) ; chrX:g.22076553T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22076553T>G , CM000685.2:g.22076553T>G	GRCh38
NC_000023.10:g.22094671T>G , CM000685.1:g.22094671T>G	GRCh37
NC_000023.9:g.22004592T>G	NCBI36
NG_007563.2:g.48751T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.862+79T>G
ENST00000683214.1:n.545-923T>G
ENST00000684143.1:c.436+79T>G	ENSP00000508264.1:n.436+79T>G
ENST00000684745.1:n.113+79T>G
ENST00000379374.5:c.436+79T>G MANE Select	ENSP00000368682.4:n.436+79T>G
ENST00000379374.4:c.436+79T>G	ENSP00000368682.4:n.436+79T>G
NM_000444.5:c.436+79T>G	NP_000435.3:n.436+79T>G
NM_001282754.1:c.436+79T>G	NP_001269683.1:n.436+79T>G
XM_011545535.1:c.436+79T>G	XP_011543837.1:n.436+79T>G
XM_017029579.1:c.-93-13876T>G	XP_016885068.1:n.-93-13876T>G
XM_024452390.1:c.145+79T>G	XP_024308158.1:n.145+79T>G
XR_001755695.1:n.1115+79T>G
NM_000444.6:c.436+79T>G MANE Select	NP_000435.3:n.436+79T>G
NM_001282754.2:c.436+79T>G	NP_001269683.1:n.436+79T>G