Canonical Allele Identifier: CA515424249

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22065172T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047054T>C , CM000685.2:g.22047054T>C	GRCh38
NC_000023.10:g.22065172T>C , CM000685.1:g.22065172T>C	GRCh37
NC_000023.9:g.21975093T>C	NCBI36
NG_007563.2:g.19252T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.618T>C
ENST00000683214.1:n.544+13931T>C
ENST00000684143.1:c.192T>C	ENSP00000508264.1:p.Ala64=
ENST00000379374.5:c.192T>C MANE Select	ENSP00000368682.4:p.Ala64=
ENST00000379374.4:c.192T>C	ENSP00000368682.4:p.Ala64=
NM_000444.5:c.192T>C	NP_000435.3:p.Ala64=
NM_001282754.1:c.192T>C	NP_001269683.1:p.Ala64=
XM_011545535.1:c.192T>C	XP_011543837.1:p.Ala64=
XM_024452390.1:c.-100T>C	XP_024308158.1:n.-100T>C
XR_001755695.1:n.871T>C
NM_000444.6:c.192T>C MANE Select	NP_000435.3:p.Ala64=
NM_001282754.2:c.192T>C	NP_001269683.1:p.Ala64=