Canonical Allele Identifier: CA10368087

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22090455C>T , CM000685.2:g.22090455C>T	GRCh38
NC_000023.10:g.22108573C>T , CM000685.1:g.22108573C>T	GRCh37
NC_000023.9:g.22018494C>T	NCBI36
NG_007563.2:g.62653C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.690C>T MANE Select	NP_000435.3:p.Ala230=
ENST00000379374.5:c.690C>T MANE Select	ENSP00000368682.4:p.Ala230=
NM_000444.5:c.690C>T	NP_000435.3:p.Ala230=
NM_001282754.1:c.690C>T	NP_001269683.1:p.Ala230=
NM_001282754.2:c.690C>T	NP_001269683.1:p.Ala230=
ENST00000379374.4:c.690C>T	ENSP00000368682.4:p.Ala230=
ENST00000475778.2:n.1116C>T
ENST00000684143.1:c.687C>T	ENSP00000508264.1:p.Ala229=
ENST00000684745.1:n.364C>T
XM_011545533.1:c.-67C>T	XP_011543835.1:n.-67C>T
XM_011545534.1:c.-67C>T	XP_011543836.1:n.-67C>T
XM_011545535.1:c.690C>T	XP_011543837.1:p.Ala230=
XM_017029579.1:c.-67C>T	XP_016885068.1:n.-67C>T
XM_024452390.1:c.399C>T	XP_024308158.1:p.Ala133=
XR_001755695.1:n.1369C>T