Canonical Allele Identifier: CA10367945

Gene: PHEX

Linked Data

• dbSNP Id: rs750612939
• ExAC: X:22051092 T / C
• gnomAD v2: X-22051092-T-C
• MyVariant Identifiers: chrX:g.22051092T>C (hg19) ; chrX:g.22032974T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22032974T>C , CM000685.2:g.22032974T>C	GRCh38
NC_000023.10:g.22051092T>C , CM000685.1:g.22051092T>C	GRCh37
NC_000023.9:g.21961013T>C	NCBI36
NG_007563.2:g.5172T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.395T>C
ENST00000683214.1:n.395T>C
ENST00000684143.1:c.-32T>C	ENSP00000508264.1:n.-32T>C
ENST00000379374.5:c.-32T>C MANE Select	ENSP00000368682.4:n.-32T>C
ENST00000379374.4:c.-32T>C	ENSP00000368682.4:n.-32T>C
NM_000444.5:c.-32T>C	NP_000435.3:n.-32T>C
NM_001282754.1:c.-32T>C	NP_001269683.1:n.-32T>C
XM_011545535.1:c.-32T>C	XP_011543837.1:n.-32T>C
XR_001755695.1:n.648T>C
NM_000444.6:c.-32T>C MANE Select	NP_000435.3:n.-32T>C
NM_001282754.2:c.-32T>C	NP_001269683.1:n.-32T>C