Canonical Allele Identifier: CA412574557

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22151652G>C (hg19) ; chrX:g.22133535G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22133535G>C , CM000685.2:g.22133535G>C	GRCh38
NC_000023.10:g.22151652G>C , CM000685.1:g.22151652G>C	GRCh37
NC_000023.9:g.22061573G>C	NCBI36
NG_007563.2:g.105732G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684745.1:n.989G>C
ENST00000379374.5:c.1315G>C MANE Select	ENSP00000368682.4:p.Val439Leu
ENST00000379374.4:c.1315G>C	ENSP00000368682.4:p.Val439Leu
NM_000444.5:c.1315G>C	NP_000435.3:p.Val439Leu
NM_001282754.1:c.1315G>C	NP_001269683.1:p.Val439Leu
XM_011545533.1:c.559G>C	XP_011543835.1:p.Val187Leu
XM_011545534.1:c.559G>C	XP_011543836.1:p.Val187Leu
XM_011545535.1:c.1315G>C	XP_011543837.1:p.Val439Leu
XM_011545536.1:c.208G>C	XP_011543838.1:p.Val70Leu
XM_011545536.2:c.208G>C	XP_011543838.1:p.Val70Leu
XM_017029579.1:c.559G>C	XP_016885068.1:p.Val187Leu
XM_024452390.1:c.1024G>C	XP_024308158.1:p.Val342Leu
XR_001755695.1:n.1994G>C
NM_000444.6:c.1315G>C MANE Select	NP_000435.3:p.Val439Leu
NM_001282754.2:c.1315G>C	NP_001269683.1:p.Val439Leu