Canonical Allele Identifier: CA412572970

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22099114A>T , CM000685.2:g.22099114A>T	GRCh38
NC_000023.10:g.22117232A>T , CM000685.1:g.22117232A>T	GRCh37
NC_000023.9:g.22027153A>T	NCBI36
NG_007563.2:g.71312A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.1042A>T MANE Select	NP_000435.3:p.Lys348Ter
ENST00000379374.5:c.1042A>T MANE Select	ENSP00000368682.4:p.Lys348Ter
NM_000444.5:c.1042A>T	NP_000435.3:p.Lys348Ter
NM_001282754.1:c.1042A>T	NP_001269683.1:p.Lys348Ter
NM_001282754.2:c.1042A>T	NP_001269683.1:p.Lys348Ter
ENST00000379374.4:c.1042A>T	ENSP00000368682.4:p.Lys348Ter
ENST00000475778.1:n.315A>T
ENST00000475778.2:n.1468A>T
ENST00000684143.1:c.1039A>T	ENSP00000508264.1:p.Lys347Ter
ENST00000684745.1:n.716A>T
XM_011545533.1:c.286A>T	XP_011543835.1:p.Lys96Ter
XM_011545534.1:c.286A>T	XP_011543836.1:p.Lys96Ter
XM_011545535.1:c.1042A>T	XP_011543837.1:p.Lys348Ter
XM_017029579.1:c.286A>T	XP_016885068.1:p.Lys96Ter
XM_024452390.1:c.751A>T	XP_024308158.1:p.Lys251Ter
XR_001755695.1:n.1721A>T