Canonical Allele Identifier: CA412568131

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22065321A>C (hg19) ; chrX:g.22047203A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047203A>C , CM000685.2:g.22047203A>C	GRCh38
NC_000023.10:g.22065321A>C , CM000685.1:g.22065321A>C	GRCh37
NC_000023.9:g.21975242A>C	NCBI36
NG_007563.2:g.19401A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.767A>C
ENST00000683214.1:n.544+14080A>C
ENST00000684143.1:c.341A>C	ENSP00000508264.1:p.Lys114Thr
ENST00000379374.5:c.341A>C MANE Select	ENSP00000368682.4:p.Lys114Thr
ENST00000379374.4:c.341A>C	ENSP00000368682.4:p.Lys114Thr
NM_000444.5:c.341A>C	NP_000435.3:p.Lys114Thr
NM_001282754.1:c.341A>C	NP_001269683.1:p.Lys114Thr
XM_011545535.1:c.341A>C	XP_011543837.1:p.Lys114Thr
XM_017029579.1:c.-102A>C	XP_016885068.1:n.-102A>C
XM_024452390.1:c.50A>C	XP_024308158.1:p.Lys17Thr
XR_001755695.1:n.1020A>C
NM_000444.6:c.341A>C MANE Select	NP_000435.3:p.Lys114Thr
NM_001282754.2:c.341A>C	NP_001269683.1:p.Lys114Thr