Canonical Allele Identifier: CA405246407
Gene: GPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.34399730C>T , CM000681.2:g.34399730C>T GRCh38
NC_000019.9:g.34890635C>T , CM000681.1:g.34890635C>T GRCh37
NC_000019.8:g.39582475C>T NCBI36
NG_012838.2:g.39991C>T
NG_012838.3:g.45139C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356487.11:c.1486C>T MANE Select ENSP00000348877.3:p.His496Tyr
ENST00000415930.8:c.1603C>T ENSP00000405573.3:p.His535Tyr
ENST00000586425.2:c.1158-6C>T
ENST00000588991.7:c.1519C>T ENSP00000465858.3:p.His507Tyr
ENST00000643067.1:n.2531C>T
ENST00000647446.1:c.*537C>T ENSP00000495129.1:n.*537C>T
ENST00000356487.9:c.1486C>T ENSP00000348877.3:p.His496Tyr
ENST00000415930.7:c.1519C>T ENSP00000405573.2:p.His507Tyr
ENST00000586077.1:n.2448C>T
ENST00000586392.1:n.1224C>T
ENST00000586425.1:c.1399-171C>T ENSP00000467670.2:n.1399-171C>T
ENST00000588991.6:c.1531C>T ENSP00000465858.2:p.His511Tyr
ENST00000592740.5:c.193+3073C>T
NM_000175.3:c.1486C>T NP_000166.2:p.His496Tyr
NM_001184722.1:c.1519C>T NP_001171651.1:p.His507Tyr
NM_001289789.1:c.1603C>T NP_001276718.1:p.His535Tyr
NM_001289790.1:c.1402C>T NP_001276719.1:p.His468Tyr
XM_005258764.1:c.1486C>T XP_005258821.1:p.His496Tyr
XM_006723148.1:c.1486C>T XP_006723211.1:p.His496Tyr
XM_011526754.1:c.1603C>T XP_011525056.1:p.His535Tyr
NM_000175.5:c.1486C>T MANE Select NP_000166.2:p.His496Tyr
NM_001289790.2:c.1402C>T NP_001276719.1:p.His468Tyr
NM_001329909.1:c.1486C>T NP_001316838.1:p.His496Tyr
NM_001329910.1:c.1486C>T NP_001316839.1:p.His496Tyr
NM_001329911.1:c.1459C>T NP_001316840.1:p.His487Tyr
XM_011526754.3:c.1603C>T XP_011525056.1:p.His535Tyr
NM_001289790.3:c.1402C>T NP_001276719.1:p.His468Tyr
NM_001329911.2:c.1459C>T NP_001316840.1:p.His487Tyr