Canonical Allele Identifier: CA412572730

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22099005G>T , CM000685.2:g.22099005G>T	GRCh38
NC_000023.10:g.22117123G>T , CM000685.1:g.22117123G>T	GRCh37
NC_000023.9:g.22027044G>T	NCBI36
NG_007563.2:g.71203G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.934-1G>T MANE Select	NP_000435.3:n.934-1G>T
ENST00000379374.5:c.934-1G>T MANE Select	ENSP00000368682.4:n.934-1G>T
NM_000444.5:c.934-1G>T	NP_000435.3:n.934-1G>T
NM_001282754.1:c.934-1G>T	NP_001269683.1:n.934-1G>T
NM_001282754.2:c.934-1G>T	NP_001269683.1:n.934-1G>T
ENST00000379374.4:c.934-1G>T	ENSP00000368682.4:n.934-1G>T
ENST00000475778.1:n.207-1G>T
ENST00000475778.2:n.1360-1G>T
ENST00000684143.1:c.931-1G>T	ENSP00000508264.1:n.931-1G>T
ENST00000684745.1:n.608-1G>T
XM_011545533.1:c.178-1G>T	XP_011543835.1:n.178-1G>T
XM_011545534.1:c.178-1G>T	XP_011543836.1:n.178-1G>T
XM_011545535.1:c.934-1G>T	XP_011543837.1:n.934-1G>T
XM_017029579.1:c.178-1G>T	XP_016885068.1:n.178-1G>T
XM_024452390.1:c.643-1G>T	XP_024308158.1:n.643-1G>T
XR_001755695.1:n.1613-1G>T