Canonical Allele Identifier: CA412572386

Gene: PHEX

Linked Data

• gnomAD v4: X-22094043-T-C
• MyVariant Identifiers: chrX:g.22112161T>C (hg19) ; chrX:g.22094043T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22094043T>C , CM000685.2:g.22094043T>C	GRCh38
NC_000023.10:g.22112161T>C , CM000685.1:g.22112161T>C	GRCh37
NC_000023.9:g.22022082T>C	NCBI36
NG_007563.2:g.66241T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1219T>C
ENST00000684143.1:c.790T>C	ENSP00000508264.1:p.Ser264Pro
ENST00000684745.1:n.467T>C
ENST00000379374.5:c.793T>C MANE Select	ENSP00000368682.4:p.Ser265Pro
ENST00000379374.4:c.793T>C	ENSP00000368682.4:p.Ser265Pro
ENST00000475778.1:n.66T>C
NM_000444.5:c.793T>C	NP_000435.3:p.Ser265Pro
NM_001282754.1:c.793T>C	NP_001269683.1:p.Ser265Pro
XM_011545533.1:c.37T>C	XP_011543835.1:p.Ser13Pro
XM_011545534.1:c.37T>C	XP_011543836.1:p.Ser13Pro
XM_011545535.1:c.793T>C	XP_011543837.1:p.Ser265Pro
XM_017029579.1:c.37T>C	XP_016885068.1:p.Ser13Pro
XM_024452390.1:c.502T>C	XP_024308158.1:p.Ser168Pro
XR_001755695.1:n.1472T>C
NM_000444.6:c.793T>C MANE Select	NP_000435.3:p.Ser265Pro
NM_001282754.2:c.793T>C	NP_001269683.1:p.Ser265Pro