Canonical Allele Identifier: CA515424445

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22065256T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047138T>C , CM000685.2:g.22047138T>C	GRCh38
NC_000023.10:g.22065256T>C , CM000685.1:g.22065256T>C	GRCh37
NC_000023.9:g.21975177T>C	NCBI36
NG_007563.2:g.19336T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.702T>C
ENST00000683214.1:n.544+14015T>C
ENST00000684143.1:c.276T>C	ENSP00000508264.1:p.Asn92=
ENST00000379374.5:c.276T>C MANE Select	ENSP00000368682.4:p.Asn92=
ENST00000379374.4:c.276T>C	ENSP00000368682.4:p.Asn92=
NM_000444.5:c.276T>C	NP_000435.3:p.Asn92=
NM_001282754.1:c.276T>C	NP_001269683.1:p.Asn92=
XM_011545535.1:c.276T>C	XP_011543837.1:p.Asn92=
XM_024452390.1:c.-16T>C	XP_024308158.1:n.-16T>C
XR_001755695.1:n.955T>C
NM_000444.6:c.276T>C MANE Select	NP_000435.3:p.Asn92=
NM_001282754.2:c.276T>C	NP_001269683.1:p.Asn92=