Canonical Allele Identifier: CA2466723280
Gene: G6PD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532267C= , CM000685.2:g.154532267C= GRCh38
NC_000023.10:g.153760482C= , CM000685.1:g.153760482C= GRCh37
NC_000023.9:g.153413676C= NCBI36
NG_009015.2:g.20306G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.1378G= ENSP00000377194.2:p.Glu460=
ENST00000439227.6:c.1381G= ENSP00000395599.2:p.Glu461=
ENST00000696420.1:c.1378G= ENSP00000512615.1:p.Glu460=
ENST00000696421.1:c.1378G= ENSP00000512616.1:p.Glu460=
ENST00000696422.1:c.1241G=
ENST00000696423.1:c.1244G=
ENST00000696424.1:c.1230G= ENSP00000512619.1:n.1230G=
ENST00000696425.1:c.*291G= ENSP00000512620.1:n.*291G=
ENST00000696426.1:c.*838G= ENSP00000512621.1:n.*838G=
ENST00000696427.1:c.*338G= ENSP00000512622.1:n.*338G=
ENST00000696428.1:c.*1220G= ENSP00000512623.1:n.*1220G=
ENST00000696429.1:c.1378G= ENSP00000512624.1:p.Glu460=
ENST00000696430.1:c.1378G= ENSP00000512625.1:p.Glu460=
ENST00000393562.10:c.1378G= MANE Select ENSP00000377192.3:p.Glu460=
ENST00000369620.6:c.1516G= ENSP00000358633.2:p.Glu506=
ENST00000393562.6:c.1468G= ENSP00000377192.2:p.Glu490=
ENST00000393564.6:c.1378G= ENSP00000377194.2:p.Glu460=
ENST00000490651.1:n.599G=
ENST00000621232.4:c.1378G= ENSP00000483686.1:p.Glu460=
NM_000402.4:c.1468G= NP_000393.4:p.Glu490=
NM_001042351.2:c.1378G= NP_001035810.1:p.Glu460=
XM_005274657.2:c.1471G= XP_005274714.1:p.Glu491=
XM_005274658.2:c.1381G= XP_005274715.1:p.Glu461=
NM_001360016.2:c.1378G= MANE Select NP_001346945.1:p.Glu460=
NM_001042351.3:c.1378G= NP_001035810.1:p.Glu460=