Canonical Allele Identifier: CA2693304367

Gene: PHEX

Linked Data

• gnomAD v4: X-22076563-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22076563G>C , CM000685.2:g.22076563G>C	GRCh38
NC_000023.10:g.22094681G>C , CM000685.1:g.22094681G>C	GRCh37
NC_000023.9:g.22004602G>C	NCBI36
NG_007563.2:g.48761G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.862+89G>C
ENST00000683214.1:n.545-913G>C
ENST00000684143.1:c.436+89G>C	ENSP00000508264.1:n.436+89G>C
ENST00000684745.1:n.113+89G>C
ENST00000379374.5:c.436+89G>C MANE Select	ENSP00000368682.4:n.436+89G>C
ENST00000379374.4:c.436+89G>C	ENSP00000368682.4:n.436+89G>C
NM_000444.5:c.436+89G>C	NP_000435.3:n.436+89G>C
NM_001282754.1:c.436+89G>C	NP_001269683.1:n.436+89G>C
XM_011545535.1:c.436+89G>C	XP_011543837.1:n.436+89G>C
XM_017029579.1:c.-93-13866G>C	XP_016885068.1:n.-93-13866G>C
XM_024452390.1:c.145+89G>C	XP_024308158.1:n.145+89G>C
XR_001755695.1:n.1115+89G>C
NM_000444.6:c.436+89G>C MANE Select	NP_000435.3:n.436+89G>C
NM_001282754.2:c.436+89G>C	NP_001269683.1:n.436+89G>C