Canonical Allele Identifier: CA2509592225

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22046699T>C , CM000685.2:g.22046699T>C	GRCh38
NC_000023.10:g.22064817T>C , CM000685.1:g.22064817T>C	GRCh37
NC_000023.9:g.21974738T>C	NCBI36
NG_007563.2:g.18897T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.614-351T>C
ENST00000683214.1:n.544+13576T>C
ENST00000684143.1:c.188-351T>C	ENSP00000508264.1:n.188-351T>C
ENST00000379374.5:c.188-351T>C MANE Select	ENSP00000368682.4:n.188-351T>C
ENST00000379374.4:c.188-351T>C	ENSP00000368682.4:n.188-351T>C
NM_000444.5:c.188-351T>C	NP_000435.3:n.188-351T>C
NM_001282754.1:c.188-351T>C	NP_001269683.1:n.188-351T>C
XM_011545535.1:c.188-351T>C	XP_011543837.1:n.188-351T>C
XM_024452390.1:c.-104-351T>C	XP_024308158.1:n.-104-351T>C
XR_001755695.1:n.867-351T>C
NM_000444.6:c.188-351T>C MANE Select	NP_000435.3:n.188-351T>C
NM_001282754.2:c.188-351T>C	NP_001269683.1:n.188-351T>C