Canonical Allele Identifier: CA2693304233

Gene: PHEX

Linked Data

• gnomAD v4: X-22047242-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047242T>C , CM000685.2:g.22047242T>C	GRCh38
NC_000023.10:g.22065360T>C , CM000685.1:g.22065360T>C	GRCh37
NC_000023.9:g.21975281T>C	NCBI36
NG_007563.2:g.19440T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.775+31T>C
ENST00000683214.1:n.544+14119T>C
ENST00000684143.1:c.349+31T>C	ENSP00000508264.1:n.349+31T>C
ENST00000379374.5:c.349+31T>C MANE Select	ENSP00000368682.4:n.349+31T>C
ENST00000379374.4:c.349+31T>C	ENSP00000368682.4:n.349+31T>C
NM_000444.5:c.349+31T>C	NP_000435.3:n.349+31T>C
NM_001282754.1:c.349+31T>C	NP_001269683.1:n.349+31T>C
XM_011545535.1:c.349+31T>C	XP_011543837.1:n.349+31T>C
XM_017029579.1:c.-94+31T>C	XP_016885068.1:n.-94+31T>C
XM_024452390.1:c.58+31T>C	XP_024308158.1:n.58+31T>C
XR_001755695.1:n.1028+31T>C
NM_000444.6:c.349+31T>C MANE Select	NP_000435.3:n.349+31T>C
NM_001282754.2:c.349+31T>C	NP_001269683.1:n.349+31T>C