Canonical Allele Identifier: CA412573324

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22132589C>A (hg19) ; chrX:g.22114471C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22114471C>A , CM000685.2:g.22114471C>A	GRCh38
NC_000023.10:g.22132589C>A , CM000685.1:g.22132589C>A	GRCh37
NC_000023.9:g.22042510C>A	NCBI36
NG_007563.2:g.86669C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684143.1:c.1184C>A	ENSP00000508264.1:p.Thr395Asn
ENST00000684745.1:n.861C>A
ENST00000379374.5:c.1187C>A MANE Select	ENSP00000368682.4:p.Thr396Asn
ENST00000379374.4:c.1187C>A	ENSP00000368682.4:p.Thr396Asn
NM_000444.5:c.1187C>A	NP_000435.3:p.Thr396Asn
NM_001282754.1:c.1187C>A	NP_001269683.1:p.Thr396Asn
XM_011545533.1:c.431C>A	XP_011543835.1:p.Thr144Asn
XM_011545534.1:c.431C>A	XP_011543836.1:p.Thr144Asn
XM_011545535.1:c.1187C>A	XP_011543837.1:p.Thr396Asn
XM_011545536.1:c.80C>A	XP_011543838.1:p.Thr27Asn
XM_011545536.2:c.80C>A	XP_011543838.1:p.Thr27Asn
XM_017029579.1:c.431C>A	XP_016885068.1:p.Thr144Asn
XM_024452390.1:c.896C>A	XP_024308158.1:p.Thr299Asn
XR_001755695.1:n.1866C>A
NM_000444.6:c.1187C>A MANE Select	NP_000435.3:p.Thr396Asn
NM_001282754.2:c.1187C>A	NP_001269683.1:p.Thr396Asn