Canonical Allele Identifier: CA327525239

Gene: PHEX

Linked Data

• dbSNP Id: rs548376149
• gnomAD v4: X-22133409-C-G
• MyVariant Identifiers: chrX:g.22151526C>G (hg19) ; chrX:g.22133409C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22133409C>G , CM000685.2:g.22133409C>G	GRCh38
NC_000023.10:g.22151526C>G , CM000685.1:g.22151526C>G	GRCh37
NC_000023.9:g.22061447C>G	NCBI36
NG_007563.2:g.105606C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684745.1:n.977-114C>G
ENST00000379374.5:c.1303-114C>G MANE Select	ENSP00000368682.4:n.1303-114C>G
ENST00000379374.4:c.1303-114C>G	ENSP00000368682.4:n.1303-114C>G
NM_000444.5:c.1303-114C>G	NP_000435.3:n.1303-114C>G
NM_001282754.1:c.1303-114C>G	NP_001269683.1:n.1303-114C>G
XM_011545533.1:c.547-114C>G	XP_011543835.1:n.547-114C>G
XM_011545534.1:c.547-114C>G	XP_011543836.1:n.547-114C>G
XM_011545535.1:c.1303-114C>G	XP_011543837.1:n.1303-114C>G
XM_011545536.1:c.196-114C>G	XP_011543838.1:n.196-114C>G
XM_011545536.2:c.196-114C>G	XP_011543838.1:n.196-114C>G
XM_017029579.1:c.547-114C>G	XP_016885068.1:n.547-114C>G
XM_024452390.1:c.1012-114C>G	XP_024308158.1:n.1012-114C>G
XR_001755695.1:n.1982-114C>G
NM_000444.6:c.1303-114C>G MANE Select	NP_000435.3:n.1303-114C>G
NM_001282754.2:c.1303-114C>G	NP_001269683.1:n.1303-114C>G