Canonical Allele Identifier: CA2693306080

Gene: PHEX

Linked Data

• gnomAD v4: X-22133447-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22133447A>C , CM000685.2:g.22133447A>C	GRCh38
NC_000023.10:g.22151564A>C , CM000685.1:g.22151564A>C	GRCh37
NC_000023.9:g.22061485A>C	NCBI36
NG_007563.2:g.105644A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684745.1:n.977-76A>C
ENST00000379374.5:c.1303-76A>C MANE Select	ENSP00000368682.4:n.1303-76A>C
ENST00000379374.4:c.1303-76A>C	ENSP00000368682.4:n.1303-76A>C
NM_000444.5:c.1303-76A>C	NP_000435.3:n.1303-76A>C
NM_001282754.1:c.1303-76A>C	NP_001269683.1:n.1303-76A>C
XM_011545533.1:c.547-76A>C	XP_011543835.1:n.547-76A>C
XM_011545534.1:c.547-76A>C	XP_011543836.1:n.547-76A>C
XM_011545535.1:c.1303-76A>C	XP_011543837.1:n.1303-76A>C
XM_011545536.1:c.196-76A>C	XP_011543838.1:n.196-76A>C
XM_011545536.2:c.196-76A>C	XP_011543838.1:n.196-76A>C
XM_017029579.1:c.547-76A>C	XP_016885068.1:n.547-76A>C
XM_024452390.1:c.1012-76A>C	XP_024308158.1:n.1012-76A>C
XR_001755695.1:n.1982-76A>C
NM_000444.6:c.1303-76A>C MANE Select	NP_000435.3:n.1303-76A>C
NM_001282754.2:c.1303-76A>C	NP_001269683.1:n.1303-76A>C