Canonical Allele Identifier: CA412571387

Gene: PHEX

Linked Data

• dbSNP Id: rs1203193139
• gnomAD v2: X-22095672-C-T
• gnomAD v3: X-22077554-C-T
• gnomAD v4: X-22077554-C-T
• MyVariant Identifiers: chrX:g.22095672C>T (hg19) ; chrX:g.22077554C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22077554C>T , CM000685.2:g.22077554C>T	GRCh38
NC_000023.10:g.22095672C>T , CM000685.1:g.22095672C>T	GRCh37
NC_000023.9:g.22005593C>T	NCBI36
NG_007563.2:g.49752C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.941C>T
ENST00000683214.1:n.623C>T
ENST00000684143.1:c.512C>T	ENSP00000508264.1:p.Ser171Phe
ENST00000684745.1:n.189C>T
ENST00000379374.5:c.515C>T MANE Select	ENSP00000368682.4:p.Ser172Phe
ENST00000379374.4:c.515C>T	ENSP00000368682.4:p.Ser172Phe
NM_000444.5:c.515C>T	NP_000435.3:p.Ser172Phe
NM_001282754.1:c.515C>T	NP_001269683.1:p.Ser172Phe
XM_011545535.1:c.515C>T	XP_011543837.1:p.Ser172Phe
XM_017029579.1:c.-93-12875C>T	XP_016885068.1:n.-93-12875C>T
XM_024452390.1:c.224C>T	XP_024308158.1:p.Ser75Phe
XR_001755695.1:n.1194C>T
NM_000444.6:c.515C>T MANE Select	NP_000435.3:p.Ser172Phe
NM_001282754.2:c.515C>T	NP_001269683.1:p.Ser172Phe