Canonical Allele Identifier: CA412574941

Gene: PHEX

Linked Data

• gnomAD v4: X-22178347-C-A
• MyVariant Identifiers: chrX:g.22196464C>A (hg19) ; chrX:g.22178347C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178347C>A , CM000685.2:g.22178347C>A	GRCh38
NC_000023.10:g.22196464C>A , CM000685.1:g.22196464C>A	GRCh37
NC_000023.9:g.22106385C>A	NCBI36
NG_007563.2:g.150544C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.111C>A	ENSP00000508003.1:p.Phe37Leu
ENST00000683162.1:c.111C>A	ENSP00000508059.1:p.Phe37Leu
ENST00000683289.1:c.111C>A	ENSP00000508195.1:p.Phe37Leu
ENST00000683917.1:n.341C>A
ENST00000684356.1:c.111C>A	ENSP00000507619.1:p.Phe37Leu
ENST00000684745.1:n.1231C>A
ENST00000379374.5:c.1557C>A MANE Select	ENSP00000368682.4:p.Phe519Leu
ENST00000379374.4:c.1557C>A	ENSP00000368682.4:p.Phe519Leu
NM_000444.5:c.1557C>A	NP_000435.3:p.Phe519Leu
NM_001282754.1:c.1557C>A	NP_001269683.1:p.Phe519Leu
XM_011545533.1:c.801C>A	XP_011543835.1:p.Phe267Leu
XM_011545534.1:c.801C>A	XP_011543836.1:p.Phe267Leu
XM_011545536.1:c.450C>A	XP_011543838.1:p.Phe150Leu
XM_011545536.2:c.450C>A	XP_011543838.1:p.Phe150Leu
XM_017029579.1:c.801C>A	XP_016885068.1:p.Phe267Leu
XM_024452390.1:c.1266C>A	XP_024308158.1:p.Phe422Leu
XR_001755695.1:n.2397C>A
NM_000444.6:c.1557C>A MANE Select	NP_000435.3:p.Phe519Leu
NM_001282754.2:c.1557C>A	NP_001269683.1:p.Phe519Leu