Canonical Allele Identifier: CA412566070

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22038538G>C , CM000685.2:g.22038538G>C	GRCh38
NC_000023.10:g.22056656G>C , CM000685.1:g.22056656G>C	GRCh37
NC_000023.9:g.21966577G>C	NCBI36
NG_007563.2:g.10736G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.187+1G>C MANE Select	NP_000435.3:n.187+1G>C
ENST00000379374.5:c.187+1G>C MANE Select	ENSP00000368682.4:n.187+1G>C
NM_000444.5:c.187+1G>C	NP_000435.3:n.187+1G>C
NM_001282754.1:c.187+1G>C	NP_001269683.1:n.187+1G>C
NM_001282754.2:c.187+1G>C	NP_001269683.1:n.187+1G>C
ENST00000379374.4:c.187+1G>C	ENSP00000368682.4:n.187+1G>C
ENST00000475778.2:n.613+1G>C
ENST00000683214.1:n.544+5415G>C
ENST00000684143.1:c.187+1G>C	ENSP00000508264.1:n.187+1G>C
XM_011545535.1:c.187+1G>C	XP_011543837.1:n.187+1G>C
XM_024452390.1:c.-105+1G>C	XP_024308158.1:n.-105+1G>C
XR_001755695.1:n.866+1G>C