Canonical Allele Identifier: CA412573293
Gene: PHEX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22114457G>C , CM000685.2:g.22114457G>C GRCh38
NC_000023.10:g.22132575G>C , CM000685.1:g.22132575G>C GRCh37
NC_000023.9:g.22042496G>C NCBI36
NG_007563.2:g.86655G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000684143.1:c.1171-1G>C ENSP00000508264.1:n.1171-1G>C
ENST00000684745.1:n.848-1G>C
ENST00000379374.5:c.1174-1G>C MANE Select ENSP00000368682.4:n.1174-1G>C
ENST00000379374.4:c.1174-1G>C ENSP00000368682.4:n.1174-1G>C
NM_000444.5:c.1174-1G>C NP_000435.3:n.1174-1G>C
NM_001282754.1:c.1174-1G>C NP_001269683.1:n.1174-1G>C
XM_011545533.1:c.418-1G>C XP_011543835.1:n.418-1G>C
XM_011545534.1:c.418-1G>C XP_011543836.1:n.418-1G>C
XM_011545535.1:c.1174-1G>C XP_011543837.1:n.1174-1G>C
XM_011545536.1:c.67-1G>C XP_011543838.1:n.67-1G>C
XM_011545536.2:c.67-1G>C XP_011543838.1:n.67-1G>C
XM_017029579.1:c.418-1G>C XP_016885068.1:n.418-1G>C
XM_024452390.1:c.883-1G>C XP_024308158.1:n.883-1G>C
XR_001755695.1:n.1853-1G>C
NM_000444.6:c.1174-1G>C MANE Select NP_000435.3:n.1174-1G>C
NM_001282754.2:c.1174-1G>C NP_001269683.1:n.1174-1G>C