Canonical Allele Identifier: CA640410696

Gene: PHEX

Linked Data

• dbSNP Id: rs1435499810
• gnomAD v2: X-22115069-A-G
• gnomAD v4: X-22096951-A-G
• MyVariant Identifiers: chrX:g.22115069A>G (hg19) ; chrX:g.22096951A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22096951A>G , CM000685.2:g.22096951A>G	GRCh38
NC_000023.10:g.22115069A>G , CM000685.1:g.22115069A>G	GRCh37
NC_000023.9:g.22024990A>G	NCBI36
NG_007563.2:g.69149A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1276-4A>G
ENST00000684143.1:c.847-4A>G	ENSP00000508264.1:n.847-4A>G
ENST00000684745.1:n.524-4A>G
ENST00000379374.5:c.850-4A>G MANE Select	ENSP00000368682.4:n.850-4A>G
ENST00000379374.4:c.850-4A>G	ENSP00000368682.4:n.850-4A>G
ENST00000475778.1:n.123-4A>G
NM_000444.5:c.850-4A>G	NP_000435.3:n.850-4A>G
NM_001282754.1:c.850-4A>G	NP_001269683.1:n.850-4A>G
XM_011545533.1:c.94-4A>G	XP_011543835.1:n.94-4A>G
XM_011545534.1:c.94-4A>G	XP_011543836.1:n.94-4A>G
XM_011545535.1:c.850-4A>G	XP_011543837.1:n.850-4A>G
XM_017029579.1:c.94-4A>G	XP_016885068.1:n.94-4A>G
XM_024452390.1:c.559-4A>G	XP_024308158.1:n.559-4A>G
XR_001755695.1:n.1529-4A>G
NM_000444.6:c.850-4A>G MANE Select	NP_000435.3:n.850-4A>G
NM_001282754.2:c.850-4A>G	NP_001269683.1:n.850-4A>G