Canonical Allele Identifier: CA412574627

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22151683T>C (hg19) ; chrX:g.22133566T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22133566T>C , CM000685.2:g.22133566T>C	GRCh38
NC_000023.10:g.22151683T>C , CM000685.1:g.22151683T>C	GRCh37
NC_000023.9:g.22061604T>C	NCBI36
NG_007563.2:g.105763T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684745.1:n.1020T>C
ENST00000379374.5:c.1346T>C MANE Select	ENSP00000368682.4:p.Met449Thr
ENST00000379374.4:c.1346T>C	ENSP00000368682.4:p.Met449Thr
NM_000444.5:c.1346T>C	NP_000435.3:p.Met449Thr
NM_001282754.1:c.1346T>C	NP_001269683.1:p.Met449Thr
XM_011545533.1:c.590T>C	XP_011543835.1:p.Met197Thr
XM_011545534.1:c.590T>C	XP_011543836.1:p.Met197Thr
XM_011545535.1:c.1346T>C	XP_011543837.1:p.Met449Thr
XM_011545536.1:c.239T>C	XP_011543838.1:p.Met80Thr
XM_011545536.2:c.239T>C	XP_011543838.1:p.Met80Thr
XM_017029579.1:c.590T>C	XP_016885068.1:p.Met197Thr
XM_024452390.1:c.1055T>C	XP_024308158.1:p.Met352Thr
XR_001755695.1:n.2025T>C
NM_000444.6:c.1346T>C MANE Select	NP_000435.3:p.Met449Thr
NM_001282754.2:c.1346T>C	NP_001269683.1:p.Met449Thr