Canonical Allele Identifier: CA10633955
Gene: PIGO HGNC NCBI

Linked Data

ClinVar Variation Id: 366764
ClinVar RCV Id: RCV000396208
dbSNP Id: rs547807832
gnomAD v2: 9-35096363-G-C
gnomAD v3: 9-35096366-G-C
gnomAD v4: 9-35096366-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35096366G>C , CM000671.2:g.35096366G>C GRCh38
NC_000009.11:g.35096363G>C , CM000671.1:g.35096363G>C GRCh37
NC_000009.10:g.35086363G>C NCBI36
NG_031990.1:g.5236C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361778.7:c.-2+195C>G ENSP00000354678.2:n.-2+195C>G
ENST00000700254.1:c.-489C>G ENSP00000514892.1:n.-489C>G
ENST00000700255.1:c.-2+195C>G ENSP00000514893.1:n.-2+195C>G
ENST00000700256.1:n.31+195C>G
ENST00000700257.1:c.-2+195C>G ENSP00000514894.1:n.-2+195C>G
ENST00000700259.1:c.-2+195C>G ENSP00000514895.1:n.-2+195C>G
ENST00000700261.1:c.-2+195C>G ENSP00000514897.1:n.-2+195C>G
ENST00000700262.1:c.-2+195C>G ENSP00000514898.1:n.-2+195C>G
ENST00000700264.1:c.-2+195C>G ENSP00000514900.1:n.-2+195C>G
ENST00000378617.4:c.-213C>G MANE Select ENSP00000367880.3:n.-213C>G
ENST00000361778.6:c.-2+195C>G ENSP00000354678.2:n.-2+195C>G
ENST00000378617.3:c.-213C>G ENSP00000367880.3:n.-213C>G
ENST00000465745.6:n.16+195C>G
ENST00000474436.1:n.185C>G
ENST00000492770.1:n.149C>G
NM_001201484.1:c.-311C>G NP_001188413.1:n.-311C>G
NM_032634.3:c.-213C>G NP_116023.2:n.-213C>G
NM_152850.3:c.-2+195C>G NP_690577.2:n.-2+195C>G
XM_005251619.2:c.-2+195C>G XP_005251676.1:n.-2+195C>G
XR_242515.1:n.20+195C>G
XM_005251619.3:c.-2+195C>G XP_005251676.1:n.-2+195C>G
XM_017015222.2:c.-311C>G XP_016870711.1:n.-311C>G
XM_017015223.1:c.-213C>G XP_016870712.1:n.-213C>G
XM_017015224.1:c.-489C>G XP_016870713.1:n.-489C>G
XR_001746390.1:n.211C>G
XR_001746391.2:n.20+195C>G
XR_242515.3:n.20+195C>G
NM_032634.4:c.-213C>G MANE Select NP_116023.2:n.-213C>G
NM_001201484.2:c.-311C>G NP_001188413.1:n.-311C>G
NM_152850.4:c.-2+195C>G NP_690577.2:n.-2+195C>G