Canonical Allele Identifier: CA515423632

Gene: PHEX

Linked Data

• gnomAD v4: X-22093986-C-A
• MyVariant Identifiers: chrX:g.22112104C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22093986C>A , CM000685.2:g.22093986C>A	GRCh38
NC_000023.10:g.22112104C>A , CM000685.1:g.22112104C>A	GRCh37
NC_000023.9:g.22022025C>A	NCBI36
NG_007563.2:g.66184C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1162C>A
ENST00000684143.1:c.733C>A	ENSP00000508264.1:p.Arg245=
ENST00000684745.1:n.410C>A
ENST00000379374.5:c.736C>A MANE Select	ENSP00000368682.4:p.Arg246=
ENST00000379374.4:c.736C>A	ENSP00000368682.4:p.Arg246=
ENST00000475778.1:n.9C>A
NM_000444.5:c.736C>A	NP_000435.3:p.Arg246=
NM_001282754.1:c.736C>A	NP_001269683.1:p.Arg246=
XM_011545533.1:c.-21C>A	XP_011543835.1:n.-21C>A
XM_011545534.1:c.-21C>A	XP_011543836.1:n.-21C>A
XM_011545535.1:c.736C>A	XP_011543837.1:p.Arg246=
XM_017029579.1:c.-21C>A	XP_016885068.1:n.-21C>A
XM_024452390.1:c.445C>A	XP_024308158.1:p.Arg149=
XR_001755695.1:n.1415C>A
NM_000444.6:c.736C>A MANE Select	NP_000435.3:p.Arg246=
NM_001282754.2:c.736C>A	NP_001269683.1:p.Arg246=