Canonical Allele Identifier: CA415234018
Gene: G6PD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532660C>G , CM000685.2:g.154532660C>G GRCh38
NC_000023.10:g.153760875C>G , CM000685.1:g.153760875C>G GRCh37
NC_000023.9:g.153414069C>G NCBI36
NG_009015.2:g.19913G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.1194G>C ENSP00000377194.2:p.Glu398Asp
ENST00000439227.6:c.1197G>C ENSP00000395599.2:p.Glu399Asp
ENST00000696420.1:c.1194G>C ENSP00000512615.1:p.Glu398Asp
ENST00000696421.1:c.1194G>C ENSP00000512616.1:p.Glu398Asp
ENST00000696422.1:c.1057G>C
ENST00000696423.1:c.1060G>C
ENST00000696424.1:c.1046G>C ENSP00000512619.1:n.1046G>C
ENST00000696425.1:c.*107G>C ENSP00000512620.1:n.*107G>C
ENST00000696426.1:c.*654G>C ENSP00000512621.1:n.*654G>C
ENST00000696427.1:c.*154G>C ENSP00000512622.1:n.*154G>C
ENST00000696428.1:c.*1036G>C ENSP00000512623.1:n.*1036G>C
ENST00000696429.1:c.1194G>C ENSP00000512624.1:p.Glu398Asp
ENST00000696430.1:c.1194G>C ENSP00000512625.1:p.Glu398Asp
ENST00000393562.10:c.1194G>C MANE Select ENSP00000377192.3:p.Glu398Asp
ENST00000369620.6:c.1332G>C ENSP00000358633.2:p.Glu444Asp
ENST00000393562.6:c.1284G>C ENSP00000377192.2:p.Glu428Asp
ENST00000393564.6:c.1194G>C ENSP00000377194.2:p.Glu398Asp
ENST00000490651.1:n.415G>C
ENST00000621232.4:c.1194G>C ENSP00000483686.1:p.Glu398Asp
NM_000402.4:c.1284G>C NP_000393.4:p.Glu428Asp
NM_001042351.2:c.1194G>C NP_001035810.1:p.Glu398Asp
XM_005274657.2:c.1287G>C XP_005274714.1:p.Glu429Asp
XM_005274658.2:c.1197G>C XP_005274715.1:p.Glu399Asp
XM_011531132.1:c.*107G>C XP_011529434.1:n.*107G>C
NM_001360016.2:c.1194G>C MANE Select NP_001346945.1:p.Glu398Asp
NM_001042351.3:c.1194G>C NP_001035810.1:p.Glu398Asp