Canonical Allele Identifier: CA415234666
Gene: G6PD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154533054A>T , CM000685.2:g.154533054A>T GRCh38
NC_000023.10:g.153761269A>T , CM000685.1:g.153761269A>T GRCh37
NC_000023.9:g.153414463A>T NCBI36
NG_009015.2:g.19519T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.939T>A ENSP00000377194.2:p.Asp313Glu
ENST00000439227.6:c.942T>A ENSP00000395599.2:p.Asp314Glu
ENST00000696420.1:c.939T>A ENSP00000512615.1:p.Asp313Glu
ENST00000696421.1:c.939T>A ENSP00000512616.1:p.Asp313Glu
ENST00000696422.1:c.802T>A
ENST00000696423.1:c.805T>A
ENST00000696424.1:c.791T>A ENSP00000512619.1:n.791T>A
ENST00000696425.1:c.865-252T>A ENSP00000512620.1:n.865-252T>A
ENST00000696426.1:c.*399T>A ENSP00000512621.1:n.*399T>A
ENST00000696427.1:c.946T>A ENSP00000512622.1:p.Trp316Arg
ENST00000696428.1:c.*781T>A ENSP00000512623.1:n.*781T>A
ENST00000696429.1:c.939T>A ENSP00000512624.1:p.Asp313Glu
ENST00000696430.1:c.939T>A ENSP00000512625.1:p.Asp313Glu
ENST00000393562.10:c.939T>A MANE Select ENSP00000377192.3:p.Asp313Glu
ENST00000369620.6:c.1077T>A ENSP00000358633.2:p.Asp359Glu
ENST00000393562.6:c.1029T>A ENSP00000377192.2:p.Asp343Glu
ENST00000393564.6:c.939T>A ENSP00000377194.2:p.Asp313Glu
ENST00000439227.5:c.942T>A ENSP00000395599.1:p.Asp314Glu
ENST00000440967.5:c.942T>A ENSP00000400648.1:p.Asp314Glu
ENST00000490651.1:n.21T>A
ENST00000621232.4:c.939T>A ENSP00000483686.1:p.Asp313Glu
NM_000402.4:c.1029T>A NP_000393.4:p.Asp343Glu
NM_001042351.2:c.939T>A NP_001035810.1:p.Asp313Glu
XM_005274657.2:c.1032T>A XP_005274714.1:p.Asp344Glu
XM_005274658.2:c.942T>A XP_005274715.1:p.Asp314Glu
XM_011531132.1:c.958-252T>A XP_011529434.1:n.958-252T>A
NM_001360016.2:c.939T>A MANE Select NP_001346945.1:p.Asp313Glu
NM_001042351.3:c.939T>A NP_001035810.1:p.Asp313Glu