Canonical Allele Identifier: CA415234515
Gene: G6PD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154533019T>G , CM000685.2:g.154533019T>G GRCh38
NC_000023.10:g.153761234T>G , CM000685.1:g.153761234T>G GRCh37
NC_000023.9:g.153414428T>G NCBI36
NG_009015.2:g.19554A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.974A>C ENSP00000377194.2:p.Asp325Ala
ENST00000439227.6:c.977A>C ENSP00000395599.2:p.Asp326Ala
ENST00000696420.1:c.974A>C ENSP00000512615.1:p.Asp325Ala
ENST00000696421.1:c.974A>C ENSP00000512616.1:p.Asp325Ala
ENST00000696422.1:c.837A>C
ENST00000696423.1:c.840A>C
ENST00000696424.1:c.826A>C ENSP00000512619.1:n.826A>C
ENST00000696425.1:c.865-217A>C ENSP00000512620.1:n.865-217A>C
ENST00000696426.1:c.*434A>C ENSP00000512621.1:n.*434A>C
ENST00000696427.1:c.981A>C ENSP00000512622.1:p.Arg327=
ENST00000696428.1:c.*816A>C ENSP00000512623.1:n.*816A>C
ENST00000696429.1:c.974A>C ENSP00000512624.1:p.Asp325Ala
ENST00000696430.1:c.974A>C ENSP00000512625.1:p.Asp325Ala
ENST00000393562.10:c.974A>C MANE Select ENSP00000377192.3:p.Asp325Ala
ENST00000369620.6:c.1112A>C ENSP00000358633.2:p.Asp371Ala
ENST00000393562.6:c.1064A>C ENSP00000377192.2:p.Asp355Ala
ENST00000393564.6:c.974A>C ENSP00000377194.2:p.Asp325Ala
ENST00000439227.5:c.977A>C ENSP00000395599.1:p.Asp326Ala
ENST00000490651.1:n.56A>C
ENST00000621232.4:c.974A>C ENSP00000483686.1:p.Asp325Ala
NM_000402.4:c.1064A>C NP_000393.4:p.Asp355Ala
NM_001042351.2:c.974A>C NP_001035810.1:p.Asp325Ala
XM_005274657.2:c.1067A>C XP_005274714.1:p.Asp356Ala
XM_005274658.2:c.977A>C XP_005274715.1:p.Asp326Ala
XM_011531132.1:c.958-217A>C XP_011529434.1:n.958-217A>C
NM_001360016.2:c.974A>C MANE Select NP_001346945.1:p.Asp325Ala
NM_001042351.3:c.974A>C NP_001035810.1:p.Asp325Ala