Canonical Allele Identifier: CA412574608

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22151676A>C (hg19) ; chrX:g.22133559A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22133559A>C , CM000685.2:g.22133559A>C	GRCh38
NC_000023.10:g.22151676A>C , CM000685.1:g.22151676A>C	GRCh37
NC_000023.9:g.22061597A>C	NCBI36
NG_007563.2:g.105756A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684745.1:n.1013A>C
ENST00000379374.5:c.1339A>C MANE Select	ENSP00000368682.4:p.Ile447Leu
ENST00000379374.4:c.1339A>C	ENSP00000368682.4:p.Ile447Leu
NM_000444.5:c.1339A>C	NP_000435.3:p.Ile447Leu
NM_001282754.1:c.1339A>C	NP_001269683.1:p.Ile447Leu
XM_011545533.1:c.583A>C	XP_011543835.1:p.Ile195Leu
XM_011545534.1:c.583A>C	XP_011543836.1:p.Ile195Leu
XM_011545535.1:c.1339A>C	XP_011543837.1:p.Ile447Leu
XM_011545536.1:c.232A>C	XP_011543838.1:p.Ile78Leu
XM_011545536.2:c.232A>C	XP_011543838.1:p.Ile78Leu
XM_017029579.1:c.583A>C	XP_016885068.1:p.Ile195Leu
XM_024452390.1:c.1048A>C	XP_024308158.1:p.Ile350Leu
XR_001755695.1:n.2018A>C
NM_000444.6:c.1339A>C MANE Select	NP_000435.3:p.Ile447Leu
NM_001282754.2:c.1339A>C	NP_001269683.1:p.Ile447Leu