Canonical Allele Identifier: CA10368137

Gene: PHEX

Linked Data

• ClinVar Variation Id: 2892779
• ClinVar RCV Id: RCV003717986
• dbSNP Id: rs199893153
• ExAC: X:22115124 A / C
• gnomAD v2: X-22115124-A-C
• gnomAD v3: X-22097006-A-C
• gnomAD v4: X-22097006-A-C
• MyVariant Identifiers: chrX:g.22115124A>C (hg19) ; chrX:g.22097006A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22097006A>C , CM000685.2:g.22097006A>C	GRCh38
NC_000023.10:g.22115124A>C , CM000685.1:g.22115124A>C	GRCh37
NC_000023.9:g.22025045A>C	NCBI36
NG_007563.2:g.69204A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.1327A>C
ENST00000684143.1:c.898A>C	ENSP00000508264.1:p.Asn300His
ENST00000684745.1:n.575A>C
ENST00000379374.5:c.901A>C MANE Select	ENSP00000368682.4:p.Asn301His
ENST00000379374.4:c.901A>C	ENSP00000368682.4:p.Asn301His
ENST00000475778.1:n.174A>C
NM_000444.5:c.901A>C	NP_000435.3:p.Asn301His
NM_001282754.1:c.901A>C	NP_001269683.1:p.Asn301His
XM_011545533.1:c.145A>C	XP_011543835.1:p.Asn49His
XM_011545534.1:c.145A>C	XP_011543836.1:p.Asn49His
XM_011545535.1:c.901A>C	XP_011543837.1:p.Asn301His
XM_017029579.1:c.145A>C	XP_016885068.1:p.Asn49His
XM_024452390.1:c.610A>C	XP_024308158.1:p.Asn204His
XR_001755695.1:n.1580A>C
NM_000444.6:c.901A>C MANE Select	NP_000435.3:p.Asn301His
NM_001282754.2:c.901A>C	NP_001269683.1:p.Asn301His