Canonical Allele Identifier: CA10368231

Gene: PHEX

Linked Data

• ClinVar Variation Id: 438531
• ClinVar RCV Id: RCV000505436 ; RCV001377690
• dbSNP Id: rs754449807
• ExAC: X:22151741 G / C
• MyVariant Identifiers: chrX:g.22151741G>C (hg19) ; chrX:g.22133624G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22133624G>C , CM000685.2:g.22133624G>C	GRCh38
NC_000023.10:g.22151741G>C , CM000685.1:g.22151741G>C	GRCh37
NC_000023.9:g.22061662G>C	NCBI36
NG_007563.2:g.105821G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684745.1:n.1078G>C
ENST00000379374.5:c.1404G>C MANE Select	ENSP00000368682.4:p.Lys468Asn
ENST00000379374.4:c.1404G>C	ENSP00000368682.4:p.Lys468Asn
NM_000444.5:c.1404G>C	NP_000435.3:p.Lys468Asn
NM_001282754.1:c.1404G>C	NP_001269683.1:p.Lys468Asn
XM_011545533.1:c.648G>C	XP_011543835.1:p.Lys216Asn
XM_011545534.1:c.648G>C	XP_011543836.1:p.Lys216Asn
XM_011545535.1:c.1404G>C	XP_011543837.1:p.Lys468Asn
XM_011545536.1:c.297G>C	XP_011543838.1:p.Lys99Asn
XM_011545536.2:c.297G>C	XP_011543838.1:p.Lys99Asn
XM_017029579.1:c.648G>C	XP_016885068.1:p.Lys216Asn
XM_024452390.1:c.1113G>C	XP_024308158.1:p.Lys371Asn
XR_001755695.1:n.2083G>C
NM_000444.6:c.1404G>C MANE Select	NP_000435.3:p.Lys468Asn
NM_001282754.2:c.1404G>C	NP_001269683.1:p.Lys468Asn