Canonical Allele Identifier: CA873924049

Gene: PHEX

Linked Data

• dbSNP Id: rs1359677038
• gnomAD v3: X-22093751-G-C
• gnomAD v4: X-22093751-G-C
• MyVariant Identifiers: chrX:g.22111869G>C (hg19) ; chrX:g.22093751G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22093751G>C , CM000685.2:g.22093751G>C	GRCh38
NC_000023.10:g.22111869G>C , CM000685.1:g.22111869G>C	GRCh37
NC_000023.9:g.22021790G>C	NCBI36
NG_007563.2:g.65949G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1159-232G>C
ENST00000684143.1:c.730-232G>C	ENSP00000508264.1:n.730-232G>C
ENST00000684745.1:n.407-232G>C
ENST00000379374.5:c.733-232G>C MANE Select	ENSP00000368682.4:n.733-232G>C
ENST00000379374.4:c.733-232G>C	ENSP00000368682.4:n.733-232G>C
ENST00000475778.1:n.6-232G>C
NM_000444.5:c.733-232G>C	NP_000435.3:n.733-232G>C
NM_001282754.1:c.733-232G>C	NP_001269683.1:n.733-232G>C
XM_011545533.1:c.-24-232G>C	XP_011543835.1:n.-24-232G>C
XM_011545534.1:c.-24-232G>C	XP_011543836.1:n.-24-232G>C
XM_011545535.1:c.733-232G>C	XP_011543837.1:n.733-232G>C
XM_017029579.1:c.-24-232G>C	XP_016885068.1:n.-24-232G>C
XM_024452390.1:c.442-232G>C	XP_024308158.1:n.442-232G>C
XR_001755695.1:n.1412-232G>C
NM_000444.6:c.733-232G>C MANE Select	NP_000435.3:n.733-232G>C
NM_001282754.2:c.733-232G>C	NP_001269683.1:n.733-232G>C