Canonical Allele Identifier: CA16621305

Gene: PHEX

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22038501C>T , CM000685.2:g.22038501C>T	GRCh38
NC_000023.10:g.22056619C>T , CM000685.1:g.22056619C>T	GRCh37
NC_000023.9:g.21966540C>T	NCBI36
NG_007563.2:g.10699C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.577C>T
ENST00000683214.1:n.544+5378C>T
ENST00000684143.1:c.151C>T	ENSP00000508264.1:p.Gln51Ter
ENST00000379374.5:c.151C>T MANE Select	ENSP00000368682.4:p.Gln51Ter
ENST00000379374.4:c.151C>T	ENSP00000368682.4:p.Gln51Ter
NM_000444.5:c.151C>T	NP_000435.3:p.Gln51Ter
NM_001282754.1:c.151C>T	NP_001269683.1:p.Gln51Ter
XM_011545535.1:c.151C>T	XP_011543837.1:p.Gln51Ter
XM_024452390.1:c.-141C>T	XP_024308158.1:n.-141C>T
XR_001755695.1:n.830C>T
NM_000444.6:c.151C>T MANE Select	NP_000435.3:p.Gln51Ter
NM_001282754.2:c.151C>T	NP_001269683.1:p.Gln51Ter