Canonical Allele Identifier: CA2693303819

Gene: PHEX

Linked Data

• gnomAD v4: X-22032883-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22032883T>C , CM000685.2:g.22032883T>C	GRCh38
NC_000023.10:g.22051001T>C , CM000685.1:g.22051001T>C	GRCh37
NC_000023.9:g.21960922T>C	NCBI36
NG_007563.2:g.5081T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.304T>C
ENST00000683214.1:n.304T>C
ENST00000684143.1:c.-123T>C	ENSP00000508264.1:n.-123T>C
ENST00000379374.5:c.-123T>C MANE Select	ENSP00000368682.4:n.-123T>C
ENST00000379374.4:c.-123T>C	ENSP00000368682.4:n.-123T>C
NM_000444.5:c.-123T>C	NP_000435.3:n.-123T>C
NM_001282754.1:c.-123T>C	NP_001269683.1:n.-123T>C
XM_011545535.1:c.-123T>C	XP_011543837.1:n.-123T>C
XR_001755695.1:n.557T>C
NM_000444.6:c.-123T>C MANE Select	NP_000435.3:n.-123T>C
NM_001282754.2:c.-123T>C	NP_001269683.1:n.-123T>C