Canonical Allele Identifier: CA2573158517

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22076478A>T , CM000685.2:g.22076478A>T	GRCh38
NC_000023.10:g.22094596A>T , CM000685.1:g.22094596A>T	GRCh37
NC_000023.9:g.22004517A>T	NCBI36
NG_007563.2:g.48676A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.436+4A>T MANE Select	NP_000435.3:n.436+4A>T
ENST00000379374.5:c.436+4A>T MANE Select	ENSP00000368682.4:n.436+4A>T
NM_000444.5:c.436+4A>T	NP_000435.3:n.436+4A>T
NM_001282754.1:c.436+4A>T	NP_001269683.1:n.436+4A>T
NM_001282754.2:c.436+4A>T	NP_001269683.1:n.436+4A>T
ENST00000379374.4:c.436+4A>T	ENSP00000368682.4:n.436+4A>T
ENST00000475778.2:n.862+4A>T
ENST00000683214.1:n.545-998A>T
ENST00000684143.1:c.436+4A>T	ENSP00000508264.1:n.436+4A>T
ENST00000684745.1:n.113+4A>T
XM_011545535.1:c.436+4A>T	XP_011543837.1:n.436+4A>T
XM_017029579.1:c.-93-13951A>T	XP_016885068.1:n.-93-13951A>T
XM_024452390.1:c.145+4A>T	XP_024308158.1:n.145+4A>T
XR_001755695.1:n.1115+4A>T