Canonical Allele Identifier: CA640855482

Gene: PHEX

Linked Data

• ClinVar Variation Id: 2816022
• ClinVar RCV Id: RCV003685705
• dbSNP Id: rs1215032673
• gnomAD v2: X-22095831-G-T
• gnomAD v3: X-22077713-G-T
• gnomAD v4: X-22077713-G-T
• MyVariant Identifiers: chrX:g.22095831G>T (hg19) ; chrX:g.22077713G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22077713G>T , CM000685.2:g.22077713G>T	GRCh38
NC_000023.10:g.22095831G>T , CM000685.1:g.22095831G>T	GRCh37
NC_000023.9:g.22005752G>T	NCBI36
NG_007563.2:g.49911G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1089+11G>T
ENST00000684143.1:c.660+11G>T	ENSP00000508264.1:n.660+11G>T
ENST00000684745.1:n.337+11G>T
ENST00000379374.5:c.663+11G>T MANE Select	ENSP00000368682.4:n.663+11G>T
ENST00000379374.4:c.663+11G>T	ENSP00000368682.4:n.663+11G>T
NM_000444.5:c.663+11G>T	NP_000435.3:n.663+11G>T
NM_001282754.1:c.663+11G>T	NP_001269683.1:n.663+11G>T
XM_011545535.1:c.663+11G>T	XP_011543837.1:n.663+11G>T
XM_017029579.1:c.-93-12716G>T	XP_016885068.1:n.-93-12716G>T
XM_024452390.1:c.372+11G>T	XP_024308158.1:n.372+11G>T
XR_001755695.1:n.1342+11G>T
NM_000444.6:c.663+11G>T MANE Select	NP_000435.3:n.663+11G>T
NM_001282754.2:c.663+11G>T	NP_001269683.1:n.663+11G>T