Canonical Allele Identifier: CA412572722

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22097040T>A , CM000685.2:g.22097040T>A	GRCh38
NC_000023.10:g.22115158T>A , CM000685.1:g.22115158T>A	GRCh37
NC_000023.9:g.22025079T>A	NCBI36
NG_007563.2:g.69238T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.933+2T>A MANE Select	NP_000435.3:n.933+2T>A
ENST00000379374.5:c.933+2T>A MANE Select	ENSP00000368682.4:n.933+2T>A
NM_000444.5:c.933+2T>A	NP_000435.3:n.933+2T>A
NM_001282754.1:c.933+2T>A	NP_001269683.1:n.933+2T>A
NM_001282754.2:c.933+2T>A	NP_001269683.1:n.933+2T>A
ENST00000379374.4:c.933+2T>A	ENSP00000368682.4:n.933+2T>A
ENST00000475778.1:n.206+2T>A
ENST00000475778.2:n.1359+2T>A
ENST00000684143.1:c.930+2T>A	ENSP00000508264.1:n.930+2T>A
ENST00000684745.1:n.607+2T>A
XM_011545533.1:c.177+2T>A	XP_011543835.1:n.177+2T>A
XM_011545534.1:c.177+2T>A	XP_011543836.1:n.177+2T>A
XM_011545535.1:c.933+2T>A	XP_011543837.1:n.933+2T>A
XM_017029579.1:c.177+2T>A	XP_016885068.1:n.177+2T>A
XM_024452390.1:c.642+2T>A	XP_024308158.1:n.642+2T>A
XR_001755695.1:n.1612+2T>A