Canonical Allele Identifier: CA373322788
Gene: PIGO HGNC NCBI

Linked Data

gnomAD v4: 9-35093033-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35093033C>A , CM000671.2:g.35093033C>A GRCh38
NC_000009.11:g.35093030C>A , CM000671.1:g.35093030C>A GRCh37
NC_000009.10:g.35083030C>A NCBI36
NG_031990.1:g.8569G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361778.7:c.1116G>T ENSP00000354678.2:p.Gln372His
ENST00000700254.1:c.1116G>T ENSP00000514892.1:p.Gln372His
ENST00000700255.1:c.*296G>T ENSP00000514893.1:n.*296G>T
ENST00000700256.1:n.1148G>T
ENST00000700257.1:c.1116G>T ENSP00000514894.1:p.Gln372His
ENST00000700259.1:c.1116G>T ENSP00000514895.1:p.Gln372His
ENST00000700260.1:c.940-266G>T ENSP00000514896.1:n.940-266G>T
ENST00000700261.1:c.1116G>T ENSP00000514897.1:p.Gln372His
ENST00000700262.1:c.1116G>T ENSP00000514898.1:p.Gln372His
ENST00000700263.1:c.992G>T ENSP00000514899.1:n.992G>T
ENST00000700264.1:c.1116G>T ENSP00000514900.1:p.Gln372His
ENST00000378617.4:c.1116G>T MANE Select ENSP00000367880.3:p.Gln372His
ENST00000298004.9:c.1116G>T ENSP00000298004.5:p.Gln372His
ENST00000361778.6:c.1116G>T ENSP00000354678.2:p.Gln372His
ENST00000378617.3:c.1116G>T ENSP00000367880.3:p.Gln372His
ENST00000465745.6:n.1855G>T
ENST00000474436.1:n.2312G>T
NM_001201484.1:c.1116G>T NP_001188413.1:p.Gln372His
NM_032634.3:c.1116G>T NP_116023.2:p.Gln372His
NM_152850.3:c.1116G>T NP_690577.2:p.Gln372His
XM_005251619.2:c.1116G>T XP_005251676.1:p.Gln372His
XM_011518056.1:c.1116G>T XP_011516358.1:p.Gln372His
XR_242515.1:n.1137G>T
XM_005251619.3:c.1116G>T XP_005251676.1:p.Gln372His
XM_017015222.2:c.1116G>T XP_016870711.1:p.Gln372His
XM_017015223.1:c.1116G>T XP_016870712.1:p.Gln372His
XM_017015224.1:c.1116G>T XP_016870713.1:p.Gln372His
XR_001746390.1:n.1539G>T
XR_001746391.2:n.1137G>T
XR_242515.3:n.1137G>T
NM_032634.4:c.1116G>T MANE Select NP_116023.2:p.Gln372His
NM_001201484.2:c.1116G>T NP_001188413.1:p.Gln372His
NM_152850.4:c.1116G>T NP_690577.2:p.Gln372His