Canonical Allele Identifier: CA412568135

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22065321A>T (hg19) ; chrX:g.22047203A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047203A>T , CM000685.2:g.22047203A>T	GRCh38
NC_000023.10:g.22065321A>T , CM000685.1:g.22065321A>T	GRCh37
NC_000023.9:g.21975242A>T	NCBI36
NG_007563.2:g.19401A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.767A>T
ENST00000683214.1:n.544+14080A>T
ENST00000684143.1:c.341A>T	ENSP00000508264.1:p.Lys114Met
ENST00000379374.5:c.341A>T MANE Select	ENSP00000368682.4:p.Lys114Met
ENST00000379374.4:c.341A>T	ENSP00000368682.4:p.Lys114Met
NM_000444.5:c.341A>T	NP_000435.3:p.Lys114Met
NM_001282754.1:c.341A>T	NP_001269683.1:p.Lys114Met
XM_011545535.1:c.341A>T	XP_011543837.1:p.Lys114Met
XM_017029579.1:c.-102A>T	XP_016885068.1:n.-102A>T
XM_024452390.1:c.50A>T	XP_024308158.1:p.Lys17Met
XR_001755695.1:n.1020A>T
NM_000444.6:c.341A>T MANE Select	NP_000435.3:p.Lys114Met
NM_001282754.2:c.341A>T	NP_001269683.1:p.Lys114Met