Canonical Allele Identifier: CA412574604

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22151674T>G (hg19) ; chrX:g.22133557T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22133557T>G , CM000685.2:g.22133557T>G	GRCh38
NC_000023.10:g.22151674T>G , CM000685.1:g.22151674T>G	GRCh37
NC_000023.9:g.22061595T>G	NCBI36
NG_007563.2:g.105754T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684745.1:n.1011T>G
ENST00000379374.5:c.1337T>G MANE Select	ENSP00000368682.4:p.Phe446Cys
ENST00000379374.4:c.1337T>G	ENSP00000368682.4:p.Phe446Cys
NM_000444.5:c.1337T>G	NP_000435.3:p.Phe446Cys
NM_001282754.1:c.1337T>G	NP_001269683.1:p.Phe446Cys
XM_011545533.1:c.581T>G	XP_011543835.1:p.Phe194Cys
XM_011545534.1:c.581T>G	XP_011543836.1:p.Phe194Cys
XM_011545535.1:c.1337T>G	XP_011543837.1:p.Phe446Cys
XM_011545536.1:c.230T>G	XP_011543838.1:p.Phe77Cys
XM_011545536.2:c.230T>G	XP_011543838.1:p.Phe77Cys
XM_017029579.1:c.581T>G	XP_016885068.1:p.Phe194Cys
XM_024452390.1:c.1046T>G	XP_024308158.1:p.Phe349Cys
XR_001755695.1:n.2016T>G
NM_000444.6:c.1337T>G MANE Select	NP_000435.3:p.Phe446Cys
NM_001282754.2:c.1337T>G	NP_001269683.1:p.Phe446Cys