Canonical Allele Identifier: CA412572084

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22090472T>C , CM000685.2:g.22090472T>C	GRCh38
NC_000023.10:g.22108590T>C , CM000685.1:g.22108590T>C	GRCh37
NC_000023.9:g.22018511T>C	NCBI36
NG_007563.2:g.62670T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.707T>C MANE Select	NP_000435.3:p.Leu236Pro
ENST00000379374.5:c.707T>C MANE Select	ENSP00000368682.4:p.Leu236Pro
NM_000444.5:c.707T>C	NP_000435.3:p.Leu236Pro
NM_001282754.1:c.707T>C	NP_001269683.1:p.Leu236Pro
NM_001282754.2:c.707T>C	NP_001269683.1:p.Leu236Pro
ENST00000379374.4:c.707T>C	ENSP00000368682.4:p.Leu236Pro
ENST00000475778.2:n.1133T>C
ENST00000684143.1:c.704T>C	ENSP00000508264.1:p.Leu235Pro
ENST00000684745.1:n.381T>C
XM_011545533.1:c.-50T>C	XP_011543835.1:n.-50T>C
XM_011545534.1:c.-50T>C	XP_011543836.1:n.-50T>C
XM_011545535.1:c.707T>C	XP_011543837.1:p.Leu236Pro
XM_017029579.1:c.-50T>C	XP_016885068.1:n.-50T>C
XM_024452390.1:c.416T>C	XP_024308158.1:p.Leu139Pro
XR_001755695.1:n.1386T>C