Canonical Allele Identifier: CA412572309

Gene: PHEX

Linked Data

• dbSNP Id: rs1486377283
• gnomAD v2: X-22112125-A-T
• MyVariant Identifiers: chrX:g.22112125A>T (hg19) ; chrX:g.22094007A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22094007A>T , CM000685.2:g.22094007A>T	GRCh38
NC_000023.10:g.22112125A>T , CM000685.1:g.22112125A>T	GRCh37
NC_000023.9:g.22022046A>T	NCBI36
NG_007563.2:g.66205A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1183A>T
ENST00000684143.1:c.754A>T	ENSP00000508264.1:p.Met252Leu
ENST00000684745.1:n.431A>T
ENST00000379374.5:c.757A>T MANE Select	ENSP00000368682.4:p.Met253Leu
ENST00000379374.4:c.757A>T	ENSP00000368682.4:p.Met253Leu
ENST00000475778.1:n.30A>T
NM_000444.5:c.757A>T	NP_000435.3:p.Met253Leu
NM_001282754.1:c.757A>T	NP_001269683.1:p.Met253Leu
XM_011545533.1:c.1A>T	XP_011543835.1:p.Met1Leu
XM_011545534.1:c.1A>T	XP_011543836.1:p.Met1Leu
XM_011545535.1:c.757A>T	XP_011543837.1:p.Met253Leu
XM_017029579.1:c.1A>T	XP_016885068.1:p.Met1Leu
XM_024452390.1:c.466A>T	XP_024308158.1:p.Met156Leu
XR_001755695.1:n.1436A>T
NM_000444.6:c.757A>T MANE Select	NP_000435.3:p.Met253Leu
NM_001282754.2:c.757A>T	NP_001269683.1:p.Met253Leu