Canonical Allele Identifier: CA412568102

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22065315A>C (hg19) ; chrX:g.22047197A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047197A>C , CM000685.2:g.22047197A>C	GRCh38
NC_000023.10:g.22065315A>C , CM000685.1:g.22065315A>C	GRCh37
NC_000023.9:g.21975236A>C	NCBI36
NG_007563.2:g.19395A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.761A>C
ENST00000683214.1:n.544+14074A>C
ENST00000684143.1:c.335A>C	ENSP00000508264.1:p.Asp112Ala
ENST00000379374.5:c.335A>C MANE Select	ENSP00000368682.4:p.Asp112Ala
ENST00000379374.4:c.335A>C	ENSP00000368682.4:p.Asp112Ala
NM_000444.5:c.335A>C	NP_000435.3:p.Asp112Ala
NM_001282754.1:c.335A>C	NP_001269683.1:p.Asp112Ala
XM_011545535.1:c.335A>C	XP_011543837.1:p.Asp112Ala
XM_017029579.1:c.-108A>C	XP_016885068.1:n.-108A>C
XM_024452390.1:c.44A>C	XP_024308158.1:p.Asp15Ala
XR_001755695.1:n.1014A>C
NM_000444.6:c.335A>C MANE Select	NP_000435.3:p.Asp112Ala
NM_001282754.2:c.335A>C	NP_001269683.1:p.Asp112Ala