Canonical Allele Identifier: CA412571601

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22095768T>C (hg19) ; chrX:g.22077650T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22077650T>C , CM000685.2:g.22077650T>C	GRCh38
NC_000023.10:g.22095768T>C , CM000685.1:g.22095768T>C	GRCh37
NC_000023.9:g.22005689T>C	NCBI36
NG_007563.2:g.49848T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.1037T>C
ENST00000683214.1:n.719T>C
ENST00000684143.1:c.608T>C	ENSP00000508264.1:p.Ile203Thr
ENST00000684745.1:n.285T>C
ENST00000379374.5:c.611T>C MANE Select	ENSP00000368682.4:p.Ile204Thr
ENST00000379374.4:c.611T>C	ENSP00000368682.4:p.Ile204Thr
NM_000444.5:c.611T>C	NP_000435.3:p.Ile204Thr
NM_001282754.1:c.611T>C	NP_001269683.1:p.Ile204Thr
XM_011545535.1:c.611T>C	XP_011543837.1:p.Ile204Thr
XM_017029579.1:c.-93-12779T>C	XP_016885068.1:n.-93-12779T>C
XM_024452390.1:c.320T>C	XP_024308158.1:p.Ile107Thr
XR_001755695.1:n.1290T>C
NM_000444.6:c.611T>C MANE Select	NP_000435.3:p.Ile204Thr
NM_001282754.2:c.611T>C	NP_001269683.1:p.Ile204Thr