Canonical Allele Identifier: CA2419152450

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047391C= , CM000685.2:g.22047391C=	GRCh38
NC_000023.10:g.22065509C= , CM000685.1:g.22065509C=	GRCh37
NC_000023.9:g.21975430C=	NCBI36
NG_007563.2:g.19589C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.775+180C=
ENST00000683214.1:n.544+14268C=
ENST00000684143.1:c.349+180C=	ENSP00000508264.1:n.349+180C=
ENST00000379374.5:c.349+180C= MANE Select	ENSP00000368682.4:n.349+180C=
ENST00000379374.4:c.349+180C=	ENSP00000368682.4:n.349+180C=
NM_000444.5:c.349+180C=	NP_000435.3:n.349+180C=
NM_001282754.1:c.349+180C=	NP_001269683.1:n.349+180C=
XM_011545535.1:c.349+180C=	XP_011543837.1:n.349+180C=
XM_017029579.1:c.-94+180C=	XP_016885068.1:n.-94+180C=
XM_024452390.1:c.58+180C=	XP_024308158.1:n.58+180C=
XR_001755695.1:n.1028+180C=
NM_000444.6:c.349+180C= MANE Select	NP_000435.3:n.349+180C=
NM_001282754.2:c.349+180C=	NP_001269683.1:n.349+180C=