Canonical Allele Identifier: CA1131577237

Gene: PHEX

Linked Data

• dbSNP Id: rs1930149316
• gnomAD v3: X-22096668-T-C
• gnomAD v4: X-22096668-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22096668T>C , CM000685.2:g.22096668T>C	GRCh38
NC_000023.10:g.22114786T>C , CM000685.1:g.22114786T>C	GRCh37
NC_000023.9:g.22024707T>C	NCBI36
NG_007563.2:g.68866T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1276-287T>C
ENST00000684143.1:c.847-287T>C	ENSP00000508264.1:n.847-287T>C
ENST00000684745.1:n.524-287T>C
ENST00000379374.5:c.850-287T>C MANE Select	ENSP00000368682.4:n.850-287T>C
ENST00000379374.4:c.850-287T>C	ENSP00000368682.4:n.850-287T>C
ENST00000475778.1:n.123-287T>C
NM_000444.5:c.850-287T>C	NP_000435.3:n.850-287T>C
NM_001282754.1:c.850-287T>C	NP_001269683.1:n.850-287T>C
XM_011545533.1:c.94-287T>C	XP_011543835.1:n.94-287T>C
XM_011545534.1:c.94-287T>C	XP_011543836.1:n.94-287T>C
XM_011545535.1:c.850-287T>C	XP_011543837.1:n.850-287T>C
XM_017029579.1:c.94-287T>C	XP_016885068.1:n.94-287T>C
XM_024452390.1:c.559-287T>C	XP_024308158.1:n.559-287T>C
XR_001755695.1:n.1529-287T>C
NM_000444.6:c.850-287T>C MANE Select	NP_000435.3:n.850-287T>C
NM_001282754.2:c.850-287T>C	NP_001269683.1:n.850-287T>C