Canonical Allele Identifier: CA10368289

Gene: PHEX

Linked Data

• dbSNP Id: rs771287470
• ExAC: X:22196507 A / C
• gnomAD v2: X-22196507-A-C
• gnomAD v3: X-22178390-A-C
• gnomAD v4: X-22178390-A-C
• MyVariant Identifiers: chrX:g.22196507A>C (hg19) ; chrX:g.22178390A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178390A>C , CM000685.2:g.22178390A>C	GRCh38
NC_000023.10:g.22196507A>C , CM000685.1:g.22196507A>C	GRCh37
NC_000023.9:g.22106428A>C	NCBI36
NG_007563.2:g.150587A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682888.1:c.140+14A>C	ENSP00000508003.1:n.140+14A>C
ENST00000683162.1:c.140+14A>C	ENSP00000508059.1:n.140+14A>C
ENST00000683289.1:c.140+14A>C	ENSP00000508195.1:n.140+14A>C
ENST00000683917.1:n.370+14A>C
ENST00000684356.1:c.140+14A>C	ENSP00000507619.1:n.140+14A>C
ENST00000684745.1:n.1260+14A>C
ENST00000379374.5:c.1586+14A>C MANE Select	ENSP00000368682.4:n.1586+14A>C
ENST00000379374.4:c.1586+14A>C	ENSP00000368682.4:n.1586+14A>C
NM_000444.5:c.1586+14A>C	NP_000435.3:n.1586+14A>C
NM_001282754.1:c.1586+14A>C	NP_001269683.1:n.1586+14A>C
XM_011545533.1:c.830+14A>C	XP_011543835.1:n.830+14A>C
XM_011545534.1:c.830+14A>C	XP_011543836.1:n.830+14A>C
XM_011545536.1:c.479+14A>C	XP_011543838.1:n.479+14A>C
XM_011545536.2:c.479+14A>C	XP_011543838.1:n.479+14A>C
XM_017029579.1:c.830+14A>C	XP_016885068.1:n.830+14A>C
XM_024452390.1:c.1295+14A>C	XP_024308158.1:n.1295+14A>C
XR_001755695.1:n.2426+14A>C
NM_000444.6:c.1586+14A>C MANE Select	NP_000435.3:n.1586+14A>C
NM_001282754.2:c.1586+14A>C	NP_001269683.1:n.1586+14A>C