Canonical Allele Identifier: CA645509369

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22038466C>G , CM000685.2:g.22038466C>G	GRCh38
NC_000023.10:g.22056584C>G , CM000685.1:g.22056584C>G	GRCh37
NC_000023.9:g.21966505C>G	NCBI36
NG_007563.2:g.10664C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.119-3C>G MANE Select	NP_000435.3:n.119-3C>G
ENST00000379374.5:c.119-3C>G MANE Select	ENSP00000368682.4:n.119-3C>G
NM_000444.5:c.119-3C>G	NP_000435.3:n.119-3C>G
NM_001282754.1:c.119-3C>G	NP_001269683.1:n.119-3C>G
NM_001282754.2:c.119-3C>G	NP_001269683.1:n.119-3C>G
ENST00000379374.4:c.119-3C>G	ENSP00000368682.4:n.119-3C>G
ENST00000475778.2:n.545-3C>G
ENST00000683214.1:n.544+5343C>G
ENST00000684143.1:c.119-3C>G	ENSP00000508264.1:n.119-3C>G
XM_011545535.1:c.119-3C>G	XP_011543837.1:n.119-3C>G
XM_024452390.1:c.-173-3C>G	XP_024308158.1:n.-173-3C>G
XR_001755695.1:n.798-3C>G