Canonical Allele Identifier: CA10368286

Gene: PHEX

Linked Data

• ClinVar Variation Id: 2173816
• ClinVar RCV Id: RCV002584756
• dbSNP Id: rs778363445
• ExAC: X:22196439 A / C
• gnomAD v2: X-22196439-A-C
• gnomAD v3: X-22178322-A-C
• gnomAD v4: X-22178322-A-C
• MyVariant Identifiers: chrX:g.22196439A>C (hg19) ; chrX:g.22178322A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178322A>C , CM000685.2:g.22178322A>C	GRCh38
NC_000023.10:g.22196439A>C , CM000685.1:g.22196439A>C	GRCh37
NC_000023.9:g.22106360A>C	NCBI36
NG_007563.2:g.150519A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.86A>C	ENSP00000508003.1:p.Lys29Thr
ENST00000683162.1:c.86A>C	ENSP00000508059.1:p.Lys29Thr
ENST00000683289.1:c.86A>C	ENSP00000508195.1:p.Lys29Thr
ENST00000683917.1:n.316A>C
ENST00000684356.1:c.86A>C	ENSP00000507619.1:p.Lys29Thr
ENST00000684745.1:n.1206A>C
ENST00000379374.5:c.1532A>C MANE Select	ENSP00000368682.4:p.Lys511Thr
ENST00000379374.4:c.1532A>C	ENSP00000368682.4:p.Lys511Thr
NM_000444.5:c.1532A>C	NP_000435.3:p.Lys511Thr
NM_001282754.1:c.1532A>C	NP_001269683.1:p.Lys511Thr
XM_011545533.1:c.776A>C	XP_011543835.1:p.Lys259Thr
XM_011545534.1:c.776A>C	XP_011543836.1:p.Lys259Thr
XM_011545536.1:c.425A>C	XP_011543838.1:p.Lys142Thr
XM_011545536.2:c.425A>C	XP_011543838.1:p.Lys142Thr
XM_017029579.1:c.776A>C	XP_016885068.1:p.Lys259Thr
XM_024452390.1:c.1241A>C	XP_024308158.1:p.Lys414Thr
XR_001755695.1:n.2372A>C
NM_000444.6:c.1532A>C MANE Select	NP_000435.3:p.Lys511Thr
NM_001282754.2:c.1532A>C	NP_001269683.1:p.Lys511Thr