Canonical Allele Identifier: CA1131593640

Gene: PHEX

Linked Data

• dbSNP Id: rs1927585433
• gnomAD v3: X-22047223-C-T
• gnomAD v4: X-22047223-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047223C>T , CM000685.2:g.22047223C>T	GRCh38
NC_000023.10:g.22065341C>T , CM000685.1:g.22065341C>T	GRCh37
NC_000023.9:g.21975262C>T	NCBI36
NG_007563.2:g.19421C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.775+12C>T
ENST00000683214.1:n.544+14100C>T
ENST00000684143.1:c.349+12C>T	ENSP00000508264.1:n.349+12C>T
ENST00000379374.5:c.349+12C>T MANE Select	ENSP00000368682.4:n.349+12C>T
ENST00000379374.4:c.349+12C>T	ENSP00000368682.4:n.349+12C>T
NM_000444.5:c.349+12C>T	NP_000435.3:n.349+12C>T
NM_001282754.1:c.349+12C>T	NP_001269683.1:n.349+12C>T
XM_011545535.1:c.349+12C>T	XP_011543837.1:n.349+12C>T
XM_017029579.1:c.-94+12C>T	XP_016885068.1:n.-94+12C>T
XM_024452390.1:c.58+12C>T	XP_024308158.1:n.58+12C>T
XR_001755695.1:n.1028+12C>T
NM_000444.6:c.349+12C>T MANE Select	NP_000435.3:n.349+12C>T
NM_001282754.2:c.349+12C>T	NP_001269683.1:n.349+12C>T