Canonical Allele Identifier: CA415233751
Gene: G6PD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532446T>G , CM000685.2:g.154532446T>G GRCh38
NC_000023.10:g.153760661T>G , CM000685.1:g.153760661T>G GRCh37
NC_000023.9:g.153413855T>G NCBI36
NG_009015.2:g.20127A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.1304A>C ENSP00000377194.2:p.Asp435Ala
ENST00000439227.6:c.1307A>C ENSP00000395599.2:p.Asp436Ala
ENST00000696420.1:c.1304A>C ENSP00000512615.1:p.Asp435Ala
ENST00000696421.1:c.1304A>C ENSP00000512616.1:p.Asp435Ala
ENST00000696422.1:c.1167A>C
ENST00000696423.1:c.1170A>C
ENST00000696424.1:c.1156A>C ENSP00000512619.1:n.1156A>C
ENST00000696425.1:c.*217A>C ENSP00000512620.1:n.*217A>C
ENST00000696426.1:c.*764A>C ENSP00000512621.1:n.*764A>C
ENST00000696427.1:c.*264A>C ENSP00000512622.1:n.*264A>C
ENST00000696428.1:c.*1146A>C ENSP00000512623.1:n.*1146A>C
ENST00000696429.1:c.1304A>C ENSP00000512624.1:p.Asp435Ala
ENST00000696430.1:c.1304A>C ENSP00000512625.1:p.Asp435Ala
ENST00000393562.10:c.1304A>C MANE Select ENSP00000377192.3:p.Asp435Ala
ENST00000369620.6:c.1442A>C ENSP00000358633.2:p.Asp481Ala
ENST00000393562.6:c.1394A>C ENSP00000377192.2:p.Asp465Ala
ENST00000393564.6:c.1304A>C ENSP00000377194.2:p.Asp435Ala
ENST00000490651.1:n.525A>C
ENST00000621232.4:c.1304A>C ENSP00000483686.1:p.Asp435Ala
NM_000402.4:c.1394A>C NP_000393.4:p.Asp465Ala
NM_001042351.2:c.1304A>C NP_001035810.1:p.Asp435Ala
XM_005274657.2:c.1397A>C XP_005274714.1:p.Asp466Ala
XM_005274658.2:c.1307A>C XP_005274715.1:p.Asp436Ala
NM_001360016.2:c.1304A>C MANE Select NP_001346945.1:p.Asp435Ala
NM_001042351.3:c.1304A>C NP_001035810.1:p.Asp435Ala