Canonical Allele Identifier: CA2466723618
Gene: G6PD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154533106G= , CM000685.2:g.154533106G= GRCh38
NC_000023.10:g.153761321G= , CM000685.1:g.153761321G= GRCh37
NC_000023.9:g.153414515G= NCBI36
NG_009015.2:g.19467C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.887C= ENSP00000377194.2:p.Ser296=
ENST00000439227.6:c.890C= ENSP00000395599.2:p.Ser297=
ENST00000696420.1:c.887C= ENSP00000512615.1:p.Ser296=
ENST00000696421.1:c.887C= ENSP00000512616.1:p.Ser296=
ENST00000696422.1:c.750C=
ENST00000696423.1:c.753C=
ENST00000696424.1:c.739C= ENSP00000512619.1:n.739C=
ENST00000696425.1:c.865-304C= ENSP00000512620.1:n.865-304C=
ENST00000696426.1:c.*347C= ENSP00000512621.1:n.*347C=
ENST00000696427.1:c.894C= ENSP00000512622.1:p.Leu298=
ENST00000696428.1:c.*729C= ENSP00000512623.1:n.*729C=
ENST00000696429.1:c.887C= ENSP00000512624.1:p.Ser296=
ENST00000696430.1:c.887C= ENSP00000512625.1:p.Ser296=
ENST00000393562.10:c.887C= MANE Select ENSP00000377192.3:p.Ser296=
ENST00000369620.6:c.1025C= ENSP00000358633.2:p.Ser342=
ENST00000393562.6:c.977C= ENSP00000377192.2:p.Ser326=
ENST00000393564.6:c.887C= ENSP00000377194.2:p.Ser296=
ENST00000439227.5:c.890C= ENSP00000395599.1:p.Ser297=
ENST00000440967.5:c.890C= ENSP00000400648.1:p.Ser297=
ENST00000621232.4:c.887C= ENSP00000483686.1:p.Ser296=
NM_000402.4:c.977C= NP_000393.4:p.Ser326=
NM_001042351.2:c.887C= NP_001035810.1:p.Ser296=
XM_005274657.2:c.980C= XP_005274714.1:p.Ser327=
XM_005274658.2:c.890C= XP_005274715.1:p.Ser297=
XM_011531132.1:c.958-304C= XP_011529434.1:n.958-304C=
NM_001360016.2:c.887C= MANE Select NP_001346945.1:p.Ser296=
NM_001042351.3:c.887C= NP_001035810.1:p.Ser296=