Canonical Allele Identifier: CA415234381
Gene: G6PD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532958C>A , CM000685.2:g.154532958C>A GRCh38
NC_000023.10:g.153761173C>A , CM000685.1:g.153761173C>A GRCh37
NC_000023.9:g.153414367C>A NCBI36
NG_009015.2:g.19615G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.1035G>T ENSP00000377194.2:p.Glu345Asp
ENST00000439227.6:c.1038G>T ENSP00000395599.2:p.Glu346Asp
ENST00000696420.1:c.1035G>T ENSP00000512615.1:p.Glu345Asp
ENST00000696421.1:c.1035G>T ENSP00000512616.1:p.Glu345Asp
ENST00000696422.1:c.898G>T
ENST00000696423.1:c.901G>T
ENST00000696424.1:c.887G>T ENSP00000512619.1:n.887G>T
ENST00000696425.1:c.865-156G>T ENSP00000512620.1:n.865-156G>T
ENST00000696426.1:c.*495G>T ENSP00000512621.1:n.*495G>T
ENST00000696427.1:c.1042G>T ENSP00000512622.1:p.Glu348Ter
ENST00000696428.1:c.*877G>T ENSP00000512623.1:n.*877G>T
ENST00000696429.1:c.1035G>T ENSP00000512624.1:p.Glu345Asp
ENST00000696430.1:c.1035G>T ENSP00000512625.1:p.Glu345Asp
ENST00000393562.10:c.1035G>T MANE Select ENSP00000377192.3:p.Glu345Asp
ENST00000369620.6:c.1173G>T ENSP00000358633.2:p.Glu391Asp
ENST00000393562.6:c.1125G>T ENSP00000377192.2:p.Glu375Asp
ENST00000393564.6:c.1035G>T ENSP00000377194.2:p.Glu345Asp
ENST00000490651.1:n.117G>T
ENST00000621232.4:c.1035G>T ENSP00000483686.1:p.Glu345Asp
NM_000402.4:c.1125G>T NP_000393.4:p.Glu375Asp
NM_001042351.2:c.1035G>T NP_001035810.1:p.Glu345Asp
XM_005274657.2:c.1128G>T XP_005274714.1:p.Glu376Asp
XM_005274658.2:c.1038G>T XP_005274715.1:p.Glu346Asp
XM_011531132.1:c.958-156G>T XP_011529434.1:n.958-156G>T
NM_001360016.2:c.1035G>T MANE Select NP_001346945.1:p.Glu345Asp
NM_001042351.3:c.1035G>T NP_001035810.1:p.Glu345Asp