Canonical Allele Identifier: CA412574688

Gene: PHEX

Linked Data

• gnomAD v4: X-22133591-G-A
• MyVariant Identifiers: chrX:g.22151708G>A (hg19) ; chrX:g.22133591G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22133591G>A , CM000685.2:g.22133591G>A	GRCh38
NC_000023.10:g.22151708G>A , CM000685.1:g.22151708G>A	GRCh37
NC_000023.9:g.22061629G>A	NCBI36
NG_007563.2:g.105788G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684745.1:n.1045G>A
ENST00000379374.5:c.1371G>A MANE Select	ENSP00000368682.4:p.Met457Ile
ENST00000379374.4:c.1371G>A	ENSP00000368682.4:p.Met457Ile
NM_000444.5:c.1371G>A	NP_000435.3:p.Met457Ile
NM_001282754.1:c.1371G>A	NP_001269683.1:p.Met457Ile
XM_011545533.1:c.615G>A	XP_011543835.1:p.Met205Ile
XM_011545534.1:c.615G>A	XP_011543836.1:p.Met205Ile
XM_011545535.1:c.1371G>A	XP_011543837.1:p.Met457Ile
XM_011545536.1:c.264G>A	XP_011543838.1:p.Met88Ile
XM_011545536.2:c.264G>A	XP_011543838.1:p.Met88Ile
XM_017029579.1:c.615G>A	XP_016885068.1:p.Met205Ile
XM_024452390.1:c.1080G>A	XP_024308158.1:p.Met360Ile
XR_001755695.1:n.2050G>A
NM_000444.6:c.1371G>A MANE Select	NP_000435.3:p.Met457Ile
NM_001282754.2:c.1371G>A	NP_001269683.1:p.Met457Ile