Canonical Allele Identifier: CA10367999

Gene: PHEX

Linked Data

• dbSNP Id: rs754929336
• ExAC: X:22065189 T / C
• gnomAD v4: X-22047071-T-C
• MyVariant Identifiers: chrX:g.22065189T>C (hg19) ; chrX:g.22047071T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047071T>C , CM000685.2:g.22047071T>C	GRCh38
NC_000023.10:g.22065189T>C , CM000685.1:g.22065189T>C	GRCh37
NC_000023.9:g.21975110T>C	NCBI36
NG_007563.2:g.19269T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.635T>C
ENST00000683214.1:n.544+13948T>C
ENST00000684143.1:c.209T>C	ENSP00000508264.1:p.Val70Ala
ENST00000379374.5:c.209T>C MANE Select	ENSP00000368682.4:p.Val70Ala
ENST00000379374.4:c.209T>C	ENSP00000368682.4:p.Val70Ala
NM_000444.5:c.209T>C	NP_000435.3:p.Val70Ala
NM_001282754.1:c.209T>C	NP_001269683.1:p.Val70Ala
XM_011545535.1:c.209T>C	XP_011543837.1:p.Val70Ala
XM_024452390.1:c.-83T>C	XP_024308158.1:n.-83T>C
XR_001755695.1:n.888T>C
NM_000444.6:c.209T>C MANE Select	NP_000435.3:p.Val70Ala
NM_001282754.2:c.209T>C	NP_001269683.1:p.Val70Ala