Canonical Allele Identifier: CA640405514

Gene: PHEX

Linked Data

• dbSNP Id: rs1269333280
• gnomAD v2: X-22051090-A-G
• gnomAD v3: X-22032972-A-G
• gnomAD v4: X-22032972-A-G
• MyVariant Identifiers: chrX:g.22051090A>G (hg19) ; chrX:g.22032972A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22032972A>G , CM000685.2:g.22032972A>G	GRCh38
NC_000023.10:g.22051090A>G , CM000685.1:g.22051090A>G	GRCh37
NC_000023.9:g.21961011A>G	NCBI36
NG_007563.2:g.5170A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.393A>G
ENST00000683214.1:n.393A>G
ENST00000684143.1:c.-34A>G	ENSP00000508264.1:n.-34A>G
ENST00000379374.5:c.-34A>G MANE Select	ENSP00000368682.4:n.-34A>G
ENST00000379374.4:c.-34A>G	ENSP00000368682.4:n.-34A>G
NM_000444.5:c.-34A>G	NP_000435.3:n.-34A>G
NM_001282754.1:c.-34A>G	NP_001269683.1:n.-34A>G
XM_011545535.1:c.-34A>G	XP_011543837.1:n.-34A>G
XR_001755695.1:n.646A>G
NM_000444.6:c.-34A>G MANE Select	NP_000435.3:n.-34A>G
NM_001282754.2:c.-34A>G	NP_001269683.1:n.-34A>G