Canonical Allele Identifier: CA415231927
Gene: G6PD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532041A>C , CM000685.2:g.154532041A>C GRCh38
NC_000023.10:g.153760256A>C , CM000685.1:g.153760256A>C GRCh37
NC_000023.9:g.153413450A>C NCBI36
NG_009015.2:g.20532T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.1507T>G ENSP00000377194.2:p.Tyr503Asp
ENST00000439227.6:c.1510T>G ENSP00000395599.2:p.Tyr504Asp
ENST00000696420.1:c.1457+147T>G ENSP00000512615.1:n.1457+147T>G
ENST00000696421.1:c.1457+147T>G ENSP00000512616.1:n.1457+147T>G
ENST00000696422.1:c.1370T>G
ENST00000696423.1:c.1373T>G
ENST00000696424.1:c.1359T>G ENSP00000512619.1:n.1359T>G
ENST00000696425.1:c.*420T>G ENSP00000512620.1:n.*420T>G
ENST00000696426.1:c.*967T>G ENSP00000512621.1:n.*967T>G
ENST00000696427.1:c.*467T>G ENSP00000512622.1:n.*467T>G
ENST00000696428.1:c.*1349T>G ENSP00000512623.1:n.*1349T>G
ENST00000696429.1:c.1507T>G ENSP00000512624.1:p.Tyr503Asp
ENST00000696430.1:c.1507T>G ENSP00000512625.1:p.Tyr503Asp
ENST00000393562.10:c.1507T>G MANE Select ENSP00000377192.3:p.Tyr503Asp
ENST00000369620.6:c.1645T>G ENSP00000358633.2:p.Tyr549Asp
ENST00000393562.6:c.1597T>G ENSP00000377192.2:p.Tyr533Asp
ENST00000393564.6:c.1507T>G ENSP00000377194.2:p.Tyr503Asp
ENST00000621232.4:c.1507T>G ENSP00000483686.1:p.Tyr503Asp
NM_000402.4:c.1597T>G NP_000393.4:p.Tyr533Asp
NM_001042351.2:c.1507T>G NP_001035810.1:p.Tyr503Asp
XM_005274657.2:c.1600T>G XP_005274714.1:p.Tyr534Asp
XM_005274658.2:c.1510T>G XP_005274715.1:p.Tyr504Asp
NM_001360016.2:c.1507T>G MANE Select NP_001346945.1:p.Tyr503Asp
NM_001042351.3:c.1507T>G NP_001035810.1:p.Tyr503Asp