Canonical Allele Identifier: CA353715
Gene: PHEX HGNC NCBI

Linked Data

ClinVar Variation Id: 242724
ClinVar RCV Id: RCV001857787
dbSNP Id: rs267606946
MyVariant Identifiers: chrX:g.22112127G>A (hg19) chrX:g.22094009G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22094009G>A , CM000685.2:g.22094009G>A GRCh38
NC_000023.10:g.22112127G>A , CM000685.1:g.22112127G>A GRCh37
NC_000023.9:g.22022048G>A NCBI36
NG_007563.2:g.66207G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000475778.2:n.1185G>A
ENST00000684143.1:c.756G>A ENSP00000508264.1:p.Met252Ile
ENST00000684745.1:n.433G>A
ENST00000379374.5:c.759G>A MANE Select ENSP00000368682.4:p.Met253Ile
ENST00000379374.4:c.759G>A ENSP00000368682.4:p.Met253Ile
ENST00000475778.1:n.32G>A
NM_000444.5:c.759G>A NP_000435.3:p.Met253Ile
NM_001282754.1:c.759G>A NP_001269683.1:p.Met253Ile
XM_011545533.1:c.3G>A XP_011543835.1:p.Met1Ile
XM_011545534.1:c.3G>A XP_011543836.1:p.Met1Ile
XM_011545535.1:c.759G>A XP_011543837.1:p.Met253Ile
XM_017029579.1:c.3G>A XP_016885068.1:p.Met1Ile
XM_024452390.1:c.468G>A XP_024308158.1:p.Met156Ile
XR_001755695.1:n.1438G>A
NM_000444.6:c.759G>A MANE Select NP_000435.3:p.Met253Ile
NM_001282754.2:c.759G>A NP_001269683.1:p.Met253Ile
Search 100 bp 5'
Search 100 bp 3'