Canonical Allele Identifier: CA10368202

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22114486C>T , CM000685.2:g.22114486C>T	GRCh38
NC_000023.10:g.22132604C>T , CM000685.1:g.22132604C>T	GRCh37
NC_000023.9:g.22042525C>T	NCBI36
NG_007563.2:g.86684C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.1202C>T MANE Select	NP_000435.3:p.Pro401Leu
ENST00000379374.5:c.1202C>T MANE Select	ENSP00000368682.4:p.Pro401Leu
NM_000444.5:c.1202C>T	NP_000435.3:p.Pro401Leu
NM_001282754.1:c.1202C>T	NP_001269683.1:p.Pro401Leu
NM_001282754.2:c.1202C>T	NP_001269683.1:p.Pro401Leu
ENST00000379374.4:c.1202C>T	ENSP00000368682.4:p.Pro401Leu
ENST00000684143.1:c.1199C>T	ENSP00000508264.1:p.Pro400Leu
ENST00000684745.1:n.876C>T
XM_011545533.1:c.446C>T	XP_011543835.1:p.Pro149Leu
XM_011545534.1:c.446C>T	XP_011543836.1:p.Pro149Leu
XM_011545535.1:c.1202C>T	XP_011543837.1:p.Pro401Leu
XM_011545536.1:c.95C>T	XP_011543838.1:p.Pro32Leu
XM_011545536.2:c.95C>T	XP_011543838.1:p.Pro32Leu
XM_017029579.1:c.446C>T	XP_016885068.1:p.Pro149Leu
XM_024452390.1:c.911C>T	XP_024308158.1:p.Pro304Leu
XR_001755695.1:n.1881C>T