Canonical Allele Identifier: CA415234345
Gene: G6PD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532943A>T , CM000685.2:g.154532943A>T GRCh38
NC_000023.10:g.153761158A>T , CM000685.1:g.153761158A>T GRCh37
NC_000023.9:g.153414352A>T NCBI36
NG_009015.2:g.19630T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.1050T>A ENSP00000377194.2:p.Asp350Glu
ENST00000439227.6:c.1053T>A ENSP00000395599.2:p.Asp351Glu
ENST00000696420.1:c.1050T>A ENSP00000512615.1:p.Asp350Glu
ENST00000696421.1:c.1050T>A ENSP00000512616.1:p.Asp350Glu
ENST00000696422.1:c.913T>A
ENST00000696423.1:c.916T>A
ENST00000696424.1:c.902T>A ENSP00000512619.1:n.902T>A
ENST00000696425.1:c.865-141T>A ENSP00000512620.1:n.865-141T>A
ENST00000696426.1:c.*510T>A ENSP00000512621.1:n.*510T>A
ENST00000696427.1:c.*10T>A ENSP00000512622.1:n.*10T>A
ENST00000696428.1:c.*892T>A ENSP00000512623.1:n.*892T>A
ENST00000696429.1:c.1050T>A ENSP00000512624.1:p.Asp350Glu
ENST00000696430.1:c.1050T>A ENSP00000512625.1:p.Asp350Glu
ENST00000393562.10:c.1050T>A MANE Select ENSP00000377192.3:p.Asp350Glu
ENST00000369620.6:c.1188T>A ENSP00000358633.2:p.Asp396Glu
ENST00000393562.6:c.1140T>A ENSP00000377192.2:p.Asp380Glu
ENST00000393564.6:c.1050T>A ENSP00000377194.2:p.Asp350Glu
ENST00000490651.1:n.132T>A
ENST00000621232.4:c.1050T>A ENSP00000483686.1:p.Asp350Glu
NM_000402.4:c.1140T>A NP_000393.4:p.Asp380Glu
NM_001042351.2:c.1050T>A NP_001035810.1:p.Asp350Glu
XM_005274657.2:c.1143T>A XP_005274714.1:p.Asp381Glu
XM_005274658.2:c.1053T>A XP_005274715.1:p.Asp351Glu
XM_011531132.1:c.958-141T>A XP_011529434.1:n.958-141T>A
NM_001360016.2:c.1050T>A MANE Select NP_001346945.1:p.Asp350Glu
NM_001042351.3:c.1050T>A NP_001035810.1:p.Asp350Glu