Canonical Allele Identifier: CA412564842

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22038492C>T , CM000685.2:g.22038492C>T	GRCh38
NC_000023.10:g.22056610C>T , CM000685.1:g.22056610C>T	GRCh37
NC_000023.9:g.21966531C>T	NCBI36
NG_007563.2:g.10690C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.142C>T MANE Select	NP_000435.3:p.Gln48Ter
ENST00000379374.5:c.142C>T MANE Select	ENSP00000368682.4:p.Gln48Ter
NM_000444.5:c.142C>T	NP_000435.3:p.Gln48Ter
NM_001282754.1:c.142C>T	NP_001269683.1:p.Gln48Ter
NM_001282754.2:c.142C>T	NP_001269683.1:p.Gln48Ter
ENST00000379374.4:c.142C>T	ENSP00000368682.4:p.Gln48Ter
ENST00000475778.2:n.568C>T
ENST00000683214.1:n.544+5369C>T
ENST00000684143.1:c.142C>T	ENSP00000508264.1:p.Gln48Ter
XM_011545535.1:c.142C>T	XP_011543837.1:p.Gln48Ter
XM_024452390.1:c.-150C>T	XP_024308158.1:n.-150C>T
XR_001755695.1:n.821C>T