Canonical Allele Identifier: CA405246854

Gene: GPI

Linked Data

• gnomAD v4: 19-34400033-A-T
• MyVariant Identifiers: chr19:g.34890938A>T (hg19) ; chr19:g.34400033A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34400033A>T , CM000681.2:g.34400033A>T	GRCh38
NC_000019.9:g.34890938A>T , CM000681.1:g.34890938A>T	GRCh37
NC_000019.8:g.39582778A>T	NCBI36
NG_012838.2:g.40294A>T
NG_012838.3:g.45442A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1674A>T MANE Select	ENSP00000348877.3:p.Gln558His
ENST00000415930.8:c.1791A>T	ENSP00000405573.3:p.Gln597His
ENST00000586425.2:c.1340A>T
ENST00000588991.7:c.1707A>T	ENSP00000465858.3:p.Gln569His
ENST00000643067.1:n.2719A>T
ENST00000647446.1:c.*725A>T	ENSP00000495129.1:n.*725A>T
ENST00000356487.9:c.1674A>T	ENSP00000348877.3:p.Gln558His
ENST00000415930.7:c.1707A>T	ENSP00000405573.2:p.Gln569His
ENST00000586077.1:n.2751A>T
ENST00000586392.1:n.1412A>T
ENST00000586425.1:c.*106A>T	ENSP00000467670.2:n.*106A>T
ENST00000588991.6:c.1719A>T	ENSP00000465858.2:p.Gln573His
ENST00000592740.5:c.193+3376A>T
NM_000175.3:c.1674A>T	NP_000166.2:p.Gln558His
NM_001184722.1:c.1707A>T	NP_001171651.1:p.Gln569His
NM_001289789.1:c.1791A>T	NP_001276718.1:p.Gln597His
NM_001289790.1:c.1590A>T	NP_001276719.1:p.Gln530His
XM_005258764.1:c.1674A>T	XP_005258821.1:p.Gln558His
XM_006723148.1:c.1674A>T	XP_006723211.1:p.Gln558His
XM_011526754.1:c.1791A>T	XP_011525056.1:p.Gln597His
NM_000175.5:c.1674A>T MANE Select	NP_000166.2:p.Gln558His
NM_001289790.2:c.1590A>T	NP_001276719.1:p.Gln530His
NM_001329909.1:c.1674A>T	NP_001316838.1:p.Gln558His
NM_001329910.1:c.1674A>T	NP_001316839.1:p.Gln558His
NM_001329911.1:c.1647A>T	NP_001316840.1:p.Gln549His
XM_011526754.3:c.1791A>T	XP_011525056.1:p.Gln597His
NM_001289790.3:c.1590A>T	NP_001276719.1:p.Gln530His
NM_001329911.2:c.1647A>T	NP_001316840.1:p.Gln549His