Canonical Allele Identifier: CA412573120

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22111489T>C , CM000685.2:g.22111489T>C	GRCh38
NC_000023.10:g.22129607T>C , CM000685.1:g.22129607T>C	GRCh37
NC_000023.9:g.22039528T>C	NCBI36
NG_007563.2:g.83687T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.1102T>C MANE Select	NP_000435.3:p.Trp368Arg
ENST00000379374.5:c.1102T>C MANE Select	ENSP00000368682.4:p.Trp368Arg
NM_000444.5:c.1102T>C	NP_000435.3:p.Trp368Arg
NM_001282754.1:c.1102T>C	NP_001269683.1:p.Trp368Arg
NM_001282754.2:c.1102T>C	NP_001269683.1:p.Trp368Arg
ENST00000379374.4:c.1102T>C	ENSP00000368682.4:p.Trp368Arg
ENST00000684143.1:c.1099T>C	ENSP00000508264.1:p.Trp367Arg
ENST00000684745.1:n.776T>C
XM_011545533.1:c.346T>C	XP_011543835.1:p.Trp116Arg
XM_011545534.1:c.346T>C	XP_011543836.1:p.Trp116Arg
XM_011545535.1:c.1102T>C	XP_011543837.1:p.Trp368Arg
XM_011545536.1:c.-6T>C	XP_011543838.1:n.-6T>C
XM_011545536.2:c.-6T>C	XP_011543838.1:n.-6T>C
XM_017029579.1:c.346T>C	XP_016885068.1:p.Trp116Arg
XM_024452390.1:c.811T>C	XP_024308158.1:p.Trp271Arg
XR_001755695.1:n.1781T>C