Canonical Allele Identifier: CA5040666
Gene: PIGO HGNC NCBI

Linked Data

dbSNP Id: rs770794433
gnomAD v2: 9-35092580-G-A
gnomAD v4: 9-35092583-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35092583G>A , CM000671.2:g.35092583G>A GRCh38
NC_000009.11:g.35092580G>A , CM000671.1:g.35092580G>A GRCh37
NC_000009.10:g.35082580G>A NCBI36
NG_031990.1:g.9019C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361778.7:c.1304C>T ENSP00000354678.2:p.Ala435Val
ENST00000700254.1:c.1304C>T ENSP00000514892.1:p.Ala435Val
ENST00000700255.1:c.*484C>T ENSP00000514893.1:n.*484C>T
ENST00000700256.1:n.1336C>T
ENST00000700257.1:c.1304C>T ENSP00000514894.1:p.Ala435Val
ENST00000700259.1:c.1304C>T ENSP00000514895.1:p.Ala435Val
ENST00000700260.1:c.1124C>T ENSP00000514896.1:p.Ala375Val
ENST00000700261.1:c.1304C>T ENSP00000514897.1:p.Ala435Val
ENST00000700262.1:c.1304C>T ENSP00000514898.1:p.Ala435Val
ENST00000700263.1:c.1180C>T ENSP00000514899.1:n.1180C>T
ENST00000700264.1:c.1304C>T ENSP00000514900.1:p.Ala435Val
ENST00000378617.4:c.1304C>T MANE Select ENSP00000367880.3:p.Ala435Val
ENST00000298004.9:c.1304C>T ENSP00000298004.5:p.Ala435Val
ENST00000361778.6:c.1304C>T ENSP00000354678.2:p.Ala435Val
ENST00000378617.3:c.1304C>T ENSP00000367880.3:p.Ala435Val
ENST00000465745.6:n.2305C>T
ENST00000474436.1:n.2762C>T
NM_001201484.1:c.1304C>T NP_001188413.1:p.Ala435Val
NM_032634.3:c.1304C>T NP_116023.2:p.Ala435Val
NM_152850.3:c.1304C>T NP_690577.2:p.Ala435Val
XM_005251619.2:c.1304C>T XP_005251676.1:p.Ala435Val
XM_011518056.1:c.1304C>T XP_011516358.1:p.Ala435Val
XR_242515.1:n.1325C>T
XM_005251619.3:c.1304C>T XP_005251676.1:p.Ala435Val
XM_017015222.2:c.1304C>T XP_016870711.1:p.Ala435Val
XM_017015223.1:c.1304C>T XP_016870712.1:p.Ala435Val
XM_017015224.1:c.1304C>T XP_016870713.1:p.Ala435Val
XR_001746390.1:n.1727C>T
XR_001746391.2:n.1325C>T
XR_242515.3:n.1325C>T
NM_032634.4:c.1304C>T MANE Select NP_116023.2:p.Ala435Val
NM_001201484.2:c.1304C>T NP_001188413.1:p.Ala435Val
NM_152850.4:c.1304C>T NP_690577.2:p.Ala435Val