Canonical Allele Identifier: CA412572487

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22112206A>C (hg19) ; chrX:g.22094088A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22094088A>C , CM000685.2:g.22094088A>C	GRCh38
NC_000023.10:g.22112206A>C , CM000685.1:g.22112206A>C	GRCh37
NC_000023.9:g.22022127A>C	NCBI36
NG_007563.2:g.66286A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1264A>C
ENST00000684143.1:c.835A>C	ENSP00000508264.1:p.Lys279Gln
ENST00000684745.1:n.512A>C
ENST00000379374.5:c.838A>C MANE Select	ENSP00000368682.4:p.Lys280Gln
ENST00000379374.4:c.838A>C	ENSP00000368682.4:p.Lys280Gln
ENST00000475778.1:n.111A>C
NM_000444.5:c.838A>C	NP_000435.3:p.Lys280Gln
NM_001282754.1:c.838A>C	NP_001269683.1:p.Lys280Gln
XM_011545533.1:c.82A>C	XP_011543835.1:p.Lys28Gln
XM_011545534.1:c.82A>C	XP_011543836.1:p.Lys28Gln
XM_011545535.1:c.838A>C	XP_011543837.1:p.Lys280Gln
XM_017029579.1:c.82A>C	XP_016885068.1:p.Lys28Gln
XM_024452390.1:c.547A>C	XP_024308158.1:p.Lys183Gln
XR_001755695.1:n.1517A>C
NM_000444.6:c.838A>C MANE Select	NP_000435.3:p.Lys280Gln
NM_001282754.2:c.838A>C	NP_001269683.1:p.Lys280Gln