Canonical Allele Identifier: CA415233873
Gene: G6PD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532599C>T , CM000685.2:g.154532599C>T GRCh38
NC_000023.10:g.153760814C>T , CM000685.1:g.153760814C>T GRCh37
NC_000023.9:g.153414008C>T NCBI36
NG_009015.2:g.19974G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000393564.7:c.1255G>A ENSP00000377194.2:p.Glu419Lys
ENST00000439227.6:c.1258G>A ENSP00000395599.2:p.Glu420Lys
ENST00000696420.1:c.1255G>A ENSP00000512615.1:p.Glu419Lys
ENST00000696421.1:c.1255G>A ENSP00000512616.1:p.Glu419Lys
ENST00000696422.1:c.1118G>A
ENST00000696423.1:c.1121G>A
ENST00000696424.1:c.1107G>A ENSP00000512619.1:n.1107G>A
ENST00000696425.1:c.*168G>A ENSP00000512620.1:n.*168G>A
ENST00000696426.1:c.*715G>A ENSP00000512621.1:n.*715G>A
ENST00000696427.1:c.*215G>A ENSP00000512622.1:n.*215G>A
ENST00000696428.1:c.*1097G>A ENSP00000512623.1:n.*1097G>A
ENST00000696429.1:c.1255G>A ENSP00000512624.1:p.Glu419Lys
ENST00000696430.1:c.1255G>A ENSP00000512625.1:p.Glu419Lys
ENST00000393562.10:c.1255G>A MANE Select ENSP00000377192.3:p.Glu419Lys
ENST00000369620.6:c.1393G>A ENSP00000358633.2:p.Glu465Lys
ENST00000393562.6:c.1345G>A ENSP00000377192.2:p.Glu449Lys
ENST00000393564.6:c.1255G>A ENSP00000377194.2:p.Glu419Lys
ENST00000490651.1:n.476G>A
ENST00000621232.4:c.1255G>A ENSP00000483686.1:p.Glu419Lys
NM_000402.4:c.1345G>A NP_000393.4:p.Glu449Lys
NM_001042351.2:c.1255G>A NP_001035810.1:p.Glu419Lys
XM_005274657.2:c.1348G>A XP_005274714.1:p.Glu450Lys
XM_005274658.2:c.1258G>A XP_005274715.1:p.Glu420Lys
XM_011531132.1:c.*168G>A XP_011529434.1:n.*168G>A
NM_001360016.2:c.1255G>A MANE Select NP_001346945.1:p.Glu419Lys
NM_001042351.3:c.1255G>A NP_001035810.1:p.Glu419Lys