Canonical Allele Identifier: CA10603714
Community Standard Title: NM_000444.6(PHEX):c.1367G>A (p.Trp456Ter)
Gene: PHEX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22133587G>A , CM000685.2:g.22133587G>A GRCh38
NC_000023.10:g.22151704G>A , CM000685.1:g.22151704G>A GRCh37
NC_000023.9:g.22061625G>A NCBI36
NG_007563.2:g.105784G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000444.6:c.1367G>A MANE Select NP_000435.3:p.Trp456Ter
ENST00000379374.5:c.1367G>A MANE Select ENSP00000368682.4:p.Trp456Ter
NM_000444.5:c.1367G>A NP_000435.3:p.Trp456Ter
NM_001282754.1:c.1367G>A NP_001269683.1:p.Trp456Ter
NM_001282754.2:c.1367G>A NP_001269683.1:p.Trp456Ter
ENST00000379374.4:c.1367G>A ENSP00000368682.4:p.Trp456Ter
ENST00000684745.1:n.1041G>A
XM_011545533.1:c.611G>A XP_011543835.1:p.Trp204Ter
XM_011545534.1:c.611G>A XP_011543836.1:p.Trp204Ter
XM_011545535.1:c.1367G>A XP_011543837.1:p.Trp456Ter
XM_011545536.1:c.260G>A XP_011543838.1:p.Trp87Ter
XM_011545536.2:c.260G>A XP_011543838.1:p.Trp87Ter
XM_017029579.1:c.611G>A XP_016885068.1:p.Trp204Ter
XM_024452390.1:c.1076G>A XP_024308158.1:p.Trp359Ter
XR_001755695.1:n.2046G>A