Canonical Allele Identifier: CA2693306119

Gene: PHEX

Linked Data

• gnomAD v4: X-22133642-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22133642T>C , CM000685.2:g.22133642T>C	GRCh38
NC_000023.10:g.22151759T>C , CM000685.1:g.22151759T>C	GRCh37
NC_000023.9:g.22061680T>C	NCBI36
NG_007563.2:g.105839T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684745.1:n.1078+18T>C
ENST00000379374.5:c.1404+18T>C MANE Select	ENSP00000368682.4:n.1404+18T>C
ENST00000379374.4:c.1404+18T>C	ENSP00000368682.4:n.1404+18T>C
NM_000444.5:c.1404+18T>C	NP_000435.3:n.1404+18T>C
NM_001282754.1:c.1404+18T>C	NP_001269683.1:n.1404+18T>C
XM_011545533.1:c.648+18T>C	XP_011543835.1:n.648+18T>C
XM_011545534.1:c.648+18T>C	XP_011543836.1:n.648+18T>C
XM_011545535.1:c.1404+18T>C	XP_011543837.1:n.1404+18T>C
XM_011545536.1:c.297+18T>C	XP_011543838.1:n.297+18T>C
XM_011545536.2:c.297+18T>C	XP_011543838.1:n.297+18T>C
XM_017029579.1:c.648+18T>C	XP_016885068.1:n.648+18T>C
XM_024452390.1:c.1113+18T>C	XP_024308158.1:n.1113+18T>C
XR_001755695.1:n.2083+18T>C
NM_000444.6:c.1404+18T>C MANE Select	NP_000435.3:n.1404+18T>C
NM_001282754.2:c.1404+18T>C	NP_001269683.1:n.1404+18T>C