Canonical Allele Identifier: CA10368134

Gene: PHEX

Linked Data

• dbSNP Id: rs769430757
• ExAC: X:22115107 C / G
• gnomAD v2: X-22115107-C-G
• gnomAD v3: X-22096989-C-G
• gnomAD v4: X-22096989-C-G
• MyVariant Identifiers: chrX:g.22115107C>G (hg19) ; chrX:g.22096989C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22096989C>G , CM000685.2:g.22096989C>G	GRCh38
NC_000023.10:g.22115107C>G , CM000685.1:g.22115107C>G	GRCh37
NC_000023.9:g.22025028C>G	NCBI36
NG_007563.2:g.69187C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.1310C>G
ENST00000684143.1:c.881C>G	ENSP00000508264.1:p.Ala294Gly
ENST00000684745.1:n.558C>G
ENST00000379374.5:c.884C>G MANE Select	ENSP00000368682.4:p.Ala295Gly
ENST00000379374.4:c.884C>G	ENSP00000368682.4:p.Ala295Gly
ENST00000475778.1:n.157C>G
NM_000444.5:c.884C>G	NP_000435.3:p.Ala295Gly
NM_001282754.1:c.884C>G	NP_001269683.1:p.Ala295Gly
XM_011545533.1:c.128C>G	XP_011543835.1:p.Ala43Gly
XM_011545534.1:c.128C>G	XP_011543836.1:p.Ala43Gly
XM_011545535.1:c.884C>G	XP_011543837.1:p.Ala295Gly
XM_017029579.1:c.128C>G	XP_016885068.1:p.Ala43Gly
XM_024452390.1:c.593C>G	XP_024308158.1:p.Ala198Gly
XR_001755695.1:n.1563C>G
NM_000444.6:c.884C>G MANE Select	NP_000435.3:p.Ala295Gly
NM_001282754.2:c.884C>G	NP_001269683.1:p.Ala295Gly