Canonical Allele Identifier: CA327525251

Gene: PHEX

Linked Data

• dbSNP Id: rs1051297293
• gnomAD v2: X-22151664-C-T
• gnomAD v3: X-22133547-C-T
• gnomAD v4: X-22133547-C-T
• MyVariant Identifiers: chrX:g.22151664C>T (hg19) ; chrX:g.22133547C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22133547C>T , CM000685.2:g.22133547C>T	GRCh38
NC_000023.10:g.22151664C>T , CM000685.1:g.22151664C>T	GRCh37
NC_000023.9:g.22061585C>T	NCBI36
NG_007563.2:g.105744C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684745.1:n.1001C>T
ENST00000379374.5:c.1327C>T MANE Select	ENSP00000368682.4:p.Arg443Cys
ENST00000379374.4:c.1327C>T	ENSP00000368682.4:p.Arg443Cys
NM_000444.5:c.1327C>T	NP_000435.3:p.Arg443Cys
NM_001282754.1:c.1327C>T	NP_001269683.1:p.Arg443Cys
XM_011545533.1:c.571C>T	XP_011543835.1:p.Arg191Cys
XM_011545534.1:c.571C>T	XP_011543836.1:p.Arg191Cys
XM_011545535.1:c.1327C>T	XP_011543837.1:p.Arg443Cys
XM_011545536.1:c.220C>T	XP_011543838.1:p.Arg74Cys
XM_011545536.2:c.220C>T	XP_011543838.1:p.Arg74Cys
XM_017029579.1:c.571C>T	XP_016885068.1:p.Arg191Cys
XM_024452390.1:c.1036C>T	XP_024308158.1:p.Arg346Cys
XR_001755695.1:n.2006C>T
NM_000444.6:c.1327C>T MANE Select	NP_000435.3:p.Arg443Cys
NM_001282754.2:c.1327C>T	NP_001269683.1:p.Arg443Cys