Canonical Allele Identifier: CA412572620

Gene: PHEX

Linked Data

• dbSNP Id: rs1255261975
• gnomAD v2: X-22115113-A-G
• gnomAD v3: X-22096995-A-G
• gnomAD v4: X-22096995-A-G
• MyVariant Identifiers: chrX:g.22115113A>G (hg19) ; chrX:g.22096995A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22096995A>G , CM000685.2:g.22096995A>G	GRCh38
NC_000023.10:g.22115113A>G , CM000685.1:g.22115113A>G	GRCh37
NC_000023.9:g.22025034A>G	NCBI36
NG_007563.2:g.69193A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.1316A>G
ENST00000684143.1:c.887A>G	ENSP00000508264.1:p.Tyr296Cys
ENST00000684745.1:n.564A>G
ENST00000379374.5:c.890A>G MANE Select	ENSP00000368682.4:p.Tyr297Cys
ENST00000379374.4:c.890A>G	ENSP00000368682.4:p.Tyr297Cys
ENST00000475778.1:n.163A>G
NM_000444.5:c.890A>G	NP_000435.3:p.Tyr297Cys
NM_001282754.1:c.890A>G	NP_001269683.1:p.Tyr297Cys
XM_011545533.1:c.134A>G	XP_011543835.1:p.Tyr45Cys
XM_011545534.1:c.134A>G	XP_011543836.1:p.Tyr45Cys
XM_011545535.1:c.890A>G	XP_011543837.1:p.Tyr297Cys
XM_017029579.1:c.134A>G	XP_016885068.1:p.Tyr45Cys
XM_024452390.1:c.599A>G	XP_024308158.1:p.Tyr200Cys
XR_001755695.1:n.1569A>G
NM_000444.6:c.890A>G MANE Select	NP_000435.3:p.Tyr297Cys
NM_001282754.2:c.890A>G	NP_001269683.1:p.Tyr297Cys