Canonical Allele Identifier: CA10368043

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22077483T>C , CM000685.2:g.22077483T>C	GRCh38
NC_000023.10:g.22095601T>C , CM000685.1:g.22095601T>C	GRCh37
NC_000023.9:g.22005522T>C	NCBI36
NG_007563.2:g.49681T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.444T>C MANE Select	NP_000435.3:p.Ile148=
ENST00000379374.5:c.444T>C MANE Select	ENSP00000368682.4:p.Ile148=
NM_000444.5:c.444T>C	NP_000435.3:p.Ile148=
NM_001282754.1:c.444T>C	NP_001269683.1:p.Ile148=
NM_001282754.2:c.444T>C	NP_001269683.1:p.Ile148=
ENST00000379374.4:c.444T>C	ENSP00000368682.4:p.Ile148=
ENST00000475778.2:n.870T>C
ENST00000683214.1:n.552T>C
ENST00000684143.1:c.441T>C	ENSP00000508264.1:p.Ile147=
ENST00000684745.1:n.118T>C
XM_011545535.1:c.444T>C	XP_011543837.1:p.Ile148=
XM_017029579.1:c.-93-12946T>C	XP_016885068.1:n.-93-12946T>C
XM_024452390.1:c.153T>C	XP_024308158.1:p.Ile51=
XR_001755695.1:n.1123T>C