Canonical Allele Identifier: CA412572500

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22112210T>A (hg19) ; chrX:g.22094092T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22094092T>A , CM000685.2:g.22094092T>A	GRCh38
NC_000023.10:g.22112210T>A , CM000685.1:g.22112210T>A	GRCh37
NC_000023.9:g.22022131T>A	NCBI36
NG_007563.2:g.66290T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1268T>A
ENST00000684143.1:c.839T>A	ENSP00000508264.1:p.Ile280Lys
ENST00000684745.1:n.516T>A
ENST00000379374.5:c.842T>A MANE Select	ENSP00000368682.4:p.Ile281Lys
ENST00000379374.4:c.842T>A	ENSP00000368682.4:p.Ile281Lys
ENST00000475778.1:n.115T>A
NM_000444.5:c.842T>A	NP_000435.3:p.Ile281Lys
NM_001282754.1:c.842T>A	NP_001269683.1:p.Ile281Lys
XM_011545533.1:c.86T>A	XP_011543835.1:p.Ile29Lys
XM_011545534.1:c.86T>A	XP_011543836.1:p.Ile29Lys
XM_011545535.1:c.842T>A	XP_011543837.1:p.Ile281Lys
XM_017029579.1:c.86T>A	XP_016885068.1:p.Ile29Lys
XM_024452390.1:c.551T>A	XP_024308158.1:p.Ile184Lys
XR_001755695.1:n.1521T>A
NM_000444.6:c.842T>A MANE Select	NP_000435.3:p.Ile281Lys
NM_001282754.2:c.842T>A	NP_001269683.1:p.Ile281Lys