Canonical Allele Identifier: CA412574857

Gene: PHEX

Linked Data

• gnomAD v4: X-22178309-C-A
• COSMIC: COSM4911039 ; COSM4911040
• MyVariant Identifiers: chrX:g.22196426C>A (hg19) ; chrX:g.22178309C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178309C>A , CM000685.2:g.22178309C>A	GRCh38
NC_000023.10:g.22196426C>A , CM000685.1:g.22196426C>A	GRCh37
NC_000023.9:g.22106347C>A	NCBI36
NG_007563.2:g.150506C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.73C>A	ENSP00000508003.1:p.Leu25Ile
ENST00000683162.1:c.73C>A	ENSP00000508059.1:p.Leu25Ile
ENST00000683289.1:c.73C>A	ENSP00000508195.1:p.Leu25Ile
ENST00000683917.1:n.303C>A
ENST00000684356.1:c.73C>A	ENSP00000507619.1:p.Leu25Ile
ENST00000684745.1:n.1193C>A
ENST00000379374.5:c.1519C>A MANE Select	ENSP00000368682.4:p.Leu507Ile
ENST00000379374.4:c.1519C>A	ENSP00000368682.4:p.Leu507Ile
NM_000444.5:c.1519C>A	NP_000435.3:p.Leu507Ile
NM_001282754.1:c.1519C>A	NP_001269683.1:p.Leu507Ile
XM_011545533.1:c.763C>A	XP_011543835.1:p.Leu255Ile
XM_011545534.1:c.763C>A	XP_011543836.1:p.Leu255Ile
XM_011545536.1:c.412C>A	XP_011543838.1:p.Leu138Ile
XM_011545536.2:c.412C>A	XP_011543838.1:p.Leu138Ile
XM_017029579.1:c.763C>A	XP_016885068.1:p.Leu255Ile
XM_024452390.1:c.1228C>A	XP_024308158.1:p.Leu410Ile
XR_001755695.1:n.2359C>A
NM_000444.6:c.1519C>A MANE Select	NP_000435.3:p.Leu507Ile
NM_001282754.2:c.1519C>A	NP_001269683.1:p.Leu507Ile