Canonical Allele Identifier: CA415234509
Gene: G6PD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154533018G>C , CM000685.2:g.154533018G>C GRCh38
NC_000023.10:g.153761233G>C , CM000685.1:g.153761233G>C GRCh37
NC_000023.9:g.153414427G>C NCBI36
NG_009015.2:g.19555C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.975C>G ENSP00000377194.2:p.Asp325Glu
ENST00000439227.6:c.978C>G ENSP00000395599.2:p.Asp326Glu
ENST00000696420.1:c.975C>G ENSP00000512615.1:p.Asp325Glu
ENST00000696421.1:c.975C>G ENSP00000512616.1:p.Asp325Glu
ENST00000696422.1:c.838C>G
ENST00000696423.1:c.841C>G
ENST00000696424.1:c.827C>G ENSP00000512619.1:n.827C>G
ENST00000696425.1:c.865-216C>G ENSP00000512620.1:n.865-216C>G
ENST00000696426.1:c.*435C>G ENSP00000512621.1:n.*435C>G
ENST00000696427.1:c.982C>G ENSP00000512622.1:p.Pro328Ala
ENST00000696428.1:c.*817C>G ENSP00000512623.1:n.*817C>G
ENST00000696429.1:c.975C>G ENSP00000512624.1:p.Asp325Glu
ENST00000696430.1:c.975C>G ENSP00000512625.1:p.Asp325Glu
ENST00000393562.10:c.975C>G MANE Select ENSP00000377192.3:p.Asp325Glu
ENST00000369620.6:c.1113C>G ENSP00000358633.2:p.Asp371Glu
ENST00000393562.6:c.1065C>G ENSP00000377192.2:p.Asp355Glu
ENST00000393564.6:c.975C>G ENSP00000377194.2:p.Asp325Glu
ENST00000439227.5:c.978C>G ENSP00000395599.1:p.Asp326Glu
ENST00000490651.1:n.57C>G
ENST00000621232.4:c.975C>G ENSP00000483686.1:p.Asp325Glu
NM_000402.4:c.1065C>G NP_000393.4:p.Asp355Glu
NM_001042351.2:c.975C>G NP_001035810.1:p.Asp325Glu
XM_005274657.2:c.1068C>G XP_005274714.1:p.Asp356Glu
XM_005274658.2:c.978C>G XP_005274715.1:p.Asp326Glu
XM_011531132.1:c.958-216C>G XP_011529434.1:n.958-216C>G
NM_001360016.2:c.975C>G MANE Select NP_001346945.1:p.Asp325Glu
NM_001042351.3:c.975C>G NP_001035810.1:p.Asp325Glu