Canonical Allele Identifier: CA2740092073

Gene: PHEX

Linked Data

• ClinVar Variation Id: 2992267
• ClinVar RCV Id: RCV003855394

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22096952C>T , CM000685.2:g.22096952C>T	GRCh38
NC_000023.10:g.22115070C>T , CM000685.1:g.22115070C>T	GRCh37
NC_000023.9:g.22024991C>T	NCBI36
NG_007563.2:g.69150C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.1276-3C>T
ENST00000684143.1:c.847-3C>T	ENSP00000508264.1:n.847-3C>T
ENST00000684745.1:n.524-3C>T
ENST00000379374.5:c.850-3C>T MANE Select	ENSP00000368682.4:n.850-3C>T
ENST00000379374.4:c.850-3C>T	ENSP00000368682.4:n.850-3C>T
ENST00000475778.1:n.123-3C>T
NM_000444.5:c.850-3C>T	NP_000435.3:n.850-3C>T
NM_001282754.1:c.850-3C>T	NP_001269683.1:n.850-3C>T
XM_011545533.1:c.94-3C>T	XP_011543835.1:n.94-3C>T
XM_011545534.1:c.94-3C>T	XP_011543836.1:n.94-3C>T
XM_011545535.1:c.850-3C>T	XP_011543837.1:n.850-3C>T
XM_017029579.1:c.94-3C>T	XP_016885068.1:n.94-3C>T
XM_024452390.1:c.559-3C>T	XP_024308158.1:n.559-3C>T
XR_001755695.1:n.1529-3C>T
NM_000444.6:c.850-3C>T MANE Select	NP_000435.3:n.850-3C>T
NM_001282754.2:c.850-3C>T	NP_001269683.1:n.850-3C>T