Canonical Allele Identifier: CA412564384

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22033124G>A , CM000685.2:g.22033124G>A	GRCh38
NC_000023.10:g.22051242G>A , CM000685.1:g.22051242G>A	GRCh37
NC_000023.9:g.21961163G>A	NCBI36
NG_007563.2:g.5322G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.118+1G>A MANE Select	NP_000435.3:n.118+1G>A
ENST00000379374.5:c.118+1G>A MANE Select	ENSP00000368682.4:n.118+1G>A
NM_000444.5:c.118+1G>A	NP_000435.3:n.118+1G>A
NM_001282754.1:c.118+1G>A	NP_001269683.1:n.118+1G>A
NM_001282754.2:c.118+1G>A	NP_001269683.1:n.118+1G>A
ENST00000379374.4:c.118+1G>A	ENSP00000368682.4:n.118+1G>A
ENST00000475778.2:n.544+1G>A
ENST00000683214.1:n.544+1G>A
ENST00000684143.1:c.118+1G>A	ENSP00000508264.1:n.118+1G>A
XM_011545535.1:c.118+1G>A	XP_011543837.1:n.118+1G>A
XR_001755695.1:n.797+1G>A