Canonical Allele Identifier: CA412572615

Gene: PHEX

Linked Data

• dbSNP Id: rs1197271636
• gnomAD v2: X-22115111-G-T
• MyVariant Identifiers: chrX:g.22115111G>T (hg19) ; chrX:g.22096993G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22096993G>T , CM000685.2:g.22096993G>T	GRCh38
NC_000023.10:g.22115111G>T , CM000685.1:g.22115111G>T	GRCh37
NC_000023.9:g.22025032G>T	NCBI36
NG_007563.2:g.69191G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.1314G>T
ENST00000684143.1:c.885G>T	ENSP00000508264.1:p.Met295Ile
ENST00000684745.1:n.562G>T
ENST00000379374.5:c.888G>T MANE Select	ENSP00000368682.4:p.Met296Ile
ENST00000379374.4:c.888G>T	ENSP00000368682.4:p.Met296Ile
ENST00000475778.1:n.161G>T
NM_000444.5:c.888G>T	NP_000435.3:p.Met296Ile
NM_001282754.1:c.888G>T	NP_001269683.1:p.Met296Ile
XM_011545533.1:c.132G>T	XP_011543835.1:p.Met44Ile
XM_011545534.1:c.132G>T	XP_011543836.1:p.Met44Ile
XM_011545535.1:c.888G>T	XP_011543837.1:p.Met296Ile
XM_017029579.1:c.132G>T	XP_016885068.1:p.Met44Ile
XM_024452390.1:c.597G>T	XP_024308158.1:p.Met199Ile
XR_001755695.1:n.1567G>T
NM_000444.6:c.888G>T MANE Select	NP_000435.3:p.Met296Ile
NM_001282754.2:c.888G>T	NP_001269683.1:p.Met296Ile