Canonical Allele Identifier: CA412572356

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22112148A>C (hg19) ; chrX:g.22094030A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22094030A>C , CM000685.2:g.22094030A>C	GRCh38
NC_000023.10:g.22112148A>C , CM000685.1:g.22112148A>C	GRCh37
NC_000023.9:g.22022069A>C	NCBI36
NG_007563.2:g.66228A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1206A>C
ENST00000684143.1:c.777A>C	ENSP00000508264.1:p.Leu259Phe
ENST00000684745.1:n.454A>C
ENST00000379374.5:c.780A>C MANE Select	ENSP00000368682.4:p.Leu260Phe
ENST00000379374.4:c.780A>C	ENSP00000368682.4:p.Leu260Phe
ENST00000475778.1:n.53A>C
NM_000444.5:c.780A>C	NP_000435.3:p.Leu260Phe
NM_001282754.1:c.780A>C	NP_001269683.1:p.Leu260Phe
XM_011545533.1:c.24A>C	XP_011543835.1:p.Leu8Phe
XM_011545534.1:c.24A>C	XP_011543836.1:p.Leu8Phe
XM_011545535.1:c.780A>C	XP_011543837.1:p.Leu260Phe
XM_017029579.1:c.24A>C	XP_016885068.1:p.Leu8Phe
XM_024452390.1:c.489A>C	XP_024308158.1:p.Leu163Phe
XR_001755695.1:n.1459A>C
NM_000444.6:c.780A>C MANE Select	NP_000435.3:p.Leu260Phe
NM_001282754.2:c.780A>C	NP_001269683.1:p.Leu260Phe