Canonical Allele Identifier: CA412572321
Gene: PHEX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22094013G>A , CM000685.2:g.22094013G>A GRCh38
NC_000023.10:g.22112131G>A , CM000685.1:g.22112131G>A GRCh37
NC_000023.9:g.22022052G>A NCBI36
NG_007563.2:g.66211G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000475778.2:n.1189G>A
ENST00000684143.1:c.760G>A ENSP00000508264.1:p.Asp254Asn
ENST00000684745.1:n.437G>A
ENST00000379374.5:c.763G>A MANE Select ENSP00000368682.4:p.Asp255Asn
ENST00000379374.4:c.763G>A ENSP00000368682.4:p.Asp255Asn
ENST00000475778.1:n.36G>A
NM_000444.5:c.763G>A NP_000435.3:p.Asp255Asn
NM_001282754.1:c.763G>A NP_001269683.1:p.Asp255Asn
XM_011545533.1:c.7G>A XP_011543835.1:p.Asp3Asn
XM_011545534.1:c.7G>A XP_011543836.1:p.Asp3Asn
XM_011545535.1:c.763G>A XP_011543837.1:p.Asp255Asn
XM_017029579.1:c.7G>A XP_016885068.1:p.Asp3Asn
XM_024452390.1:c.472G>A XP_024308158.1:p.Asp158Asn
XR_001755695.1:n.1442G>A
NM_000444.6:c.763G>A MANE Select NP_000435.3:p.Asp255Asn
NM_001282754.2:c.763G>A NP_001269683.1:p.Asp255Asn