Canonical Allele Identifier: CA412573391

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22114501G>T , CM000685.2:g.22114501G>T	GRCh38
NC_000023.10:g.22132619G>T , CM000685.1:g.22132619G>T	GRCh37
NC_000023.9:g.22042540G>T	NCBI36
NG_007563.2:g.86699G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.1217G>T MANE Select	NP_000435.3:p.Cys406Phe
ENST00000379374.5:c.1217G>T MANE Select	ENSP00000368682.4:p.Cys406Phe
NM_000444.5:c.1217G>T	NP_000435.3:p.Cys406Phe
NM_001282754.1:c.1217G>T	NP_001269683.1:p.Cys406Phe
NM_001282754.2:c.1217G>T	NP_001269683.1:p.Cys406Phe
ENST00000379374.4:c.1217G>T	ENSP00000368682.4:p.Cys406Phe
ENST00000684143.1:c.1214G>T	ENSP00000508264.1:p.Cys405Phe
ENST00000684745.1:n.891G>T
XM_011545533.1:c.461G>T	XP_011543835.1:p.Cys154Phe
XM_011545534.1:c.461G>T	XP_011543836.1:p.Cys154Phe
XM_011545535.1:c.1217G>T	XP_011543837.1:p.Cys406Phe
XM_011545536.1:c.110G>T	XP_011543838.1:p.Cys37Phe
XM_011545536.2:c.110G>T	XP_011543838.1:p.Cys37Phe
XM_017029579.1:c.461G>T	XP_016885068.1:p.Cys154Phe
XM_024452390.1:c.926G>T	XP_024308158.1:p.Cys309Phe
XR_001755695.1:n.1896G>T