Canonical Allele Identifier: CA2740130022
Gene: G6PD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532085C= , CM000685.2:g.154532085C= GRCh38
NC_000023.10:g.153760300C= , CM000685.1:g.153760300C= GRCh37
NC_000023.9:g.153413494C= NCBI36
NG_009015.2:g.20488G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.1463G= ENSP00000377194.2:p.Gly488=
ENST00000439227.6:c.1466G= ENSP00000395599.2:p.Gly489=
ENST00000696420.1:c.1457+103G= ENSP00000512615.1:n.1457+103G=
ENST00000696421.1:c.1457+103G= ENSP00000512616.1:n.1457+103G=
ENST00000696422.1:c.1326G=
ENST00000696423.1:c.1329G=
ENST00000696424.1:c.1315G= ENSP00000512619.1:n.1315G=
ENST00000696425.1:c.*376G= ENSP00000512620.1:n.*376G=
ENST00000696426.1:c.*923G= ENSP00000512621.1:n.*923G=
ENST00000696427.1:c.*423G= ENSP00000512622.1:n.*423G=
ENST00000696428.1:c.*1305G= ENSP00000512623.1:n.*1305G=
ENST00000696429.1:c.1463G= ENSP00000512624.1:p.Gly488=
ENST00000696430.1:c.1463G= ENSP00000512625.1:p.Gly488=
ENST00000393562.10:c.1463G= MANE Select ENSP00000377192.3:p.Gly488=
ENST00000369620.6:c.1601G= ENSP00000358633.2:p.Gly534=
ENST00000393562.6:c.1553G= ENSP00000377192.2:p.Gly518=
ENST00000393564.6:c.1463G= ENSP00000377194.2:p.Gly488=
ENST00000490651.1:n.781G=
ENST00000621232.4:c.1463G= ENSP00000483686.1:p.Gly488=
NM_000402.4:c.1553G= NP_000393.4:p.Gly518=
NM_001042351.2:c.1463G= NP_001035810.1:p.Gly488=
XM_005274657.2:c.1556G= XP_005274714.1:p.Gly519=
XM_005274658.2:c.1466G= XP_005274715.1:p.Gly489=
NM_001360016.2:c.1463G= MANE Select NP_001346945.1:p.Gly488=
NM_001042351.3:c.1463G= NP_001035810.1:p.Gly488=