Canonical Allele Identifier: CA2466723423
Gene: G6PD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532611G= , CM000685.2:g.154532611G= GRCh38
NC_000023.10:g.153760826G= , CM000685.1:g.153760826G= GRCh37
NC_000023.9:g.153414020G= NCBI36
NG_009015.2:g.19962C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.1243C= ENSP00000377194.2:p.Pro415=
ENST00000439227.6:c.1246C= ENSP00000395599.2:p.Pro416=
ENST00000696420.1:c.1243C= ENSP00000512615.1:p.Pro415=
ENST00000696421.1:c.1243C= ENSP00000512616.1:p.Pro415=
ENST00000696422.1:c.1106C=
ENST00000696423.1:c.1109C=
ENST00000696424.1:c.1095C= ENSP00000512619.1:n.1095C=
ENST00000696425.1:c.*156C= ENSP00000512620.1:n.*156C=
ENST00000696426.1:c.*703C= ENSP00000512621.1:n.*703C=
ENST00000696427.1:c.*203C= ENSP00000512622.1:n.*203C=
ENST00000696428.1:c.*1085C= ENSP00000512623.1:n.*1085C=
ENST00000696429.1:c.1243C= ENSP00000512624.1:p.Pro415=
ENST00000696430.1:c.1243C= ENSP00000512625.1:p.Pro415=
ENST00000393562.10:c.1243C= MANE Select ENSP00000377192.3:p.Pro415=
ENST00000369620.6:c.1381C= ENSP00000358633.2:p.Pro461=
ENST00000393562.6:c.1333C= ENSP00000377192.2:p.Pro445=
ENST00000393564.6:c.1243C= ENSP00000377194.2:p.Pro415=
ENST00000490651.1:n.464C=
ENST00000621232.4:c.1243C= ENSP00000483686.1:p.Pro415=
NM_000402.4:c.1333C= NP_000393.4:p.Pro445=
NM_001042351.2:c.1243C= NP_001035810.1:p.Pro415=
XM_005274657.2:c.1336C= XP_005274714.1:p.Pro446=
XM_005274658.2:c.1246C= XP_005274715.1:p.Pro416=
XM_011531132.1:c.*156C= XP_011529434.1:n.*156C=
NM_001360016.2:c.1243C= MANE Select NP_001346945.1:p.Pro415=
NM_001042351.3:c.1243C= NP_001035810.1:p.Pro415=