Canonical Allele Identifier: CA415233701
Gene: G6PD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532422T>C , CM000685.2:g.154532422T>C GRCh38
NC_000023.10:g.153760637T>C , CM000685.1:g.153760637T>C GRCh37
NC_000023.9:g.153413831T>C NCBI36
NG_009015.2:g.20151A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.1328A>G ENSP00000377194.2:p.Asp443Gly
ENST00000439227.6:c.1331A>G ENSP00000395599.2:p.Asp444Gly
ENST00000696420.1:c.1328A>G ENSP00000512615.1:p.Asp443Gly
ENST00000696421.1:c.1328A>G ENSP00000512616.1:p.Asp443Gly
ENST00000696422.1:c.1191A>G
ENST00000696423.1:c.1194A>G
ENST00000696424.1:c.1180A>G ENSP00000512619.1:n.1180A>G
ENST00000696425.1:c.*241A>G ENSP00000512620.1:n.*241A>G
ENST00000696426.1:c.*788A>G ENSP00000512621.1:n.*788A>G
ENST00000696427.1:c.*288A>G ENSP00000512622.1:n.*288A>G
ENST00000696428.1:c.*1170A>G ENSP00000512623.1:n.*1170A>G
ENST00000696429.1:c.1328A>G ENSP00000512624.1:p.Asp443Gly
ENST00000696430.1:c.1328A>G ENSP00000512625.1:p.Asp443Gly
ENST00000393562.10:c.1328A>G MANE Select ENSP00000377192.3:p.Asp443Gly
ENST00000369620.6:c.1466A>G ENSP00000358633.2:p.Asp489Gly
ENST00000393562.6:c.1418A>G ENSP00000377192.2:p.Asp473Gly
ENST00000393564.6:c.1328A>G ENSP00000377194.2:p.Asp443Gly
ENST00000490651.1:n.549A>G
ENST00000621232.4:c.1328A>G ENSP00000483686.1:p.Asp443Gly
NM_000402.4:c.1418A>G NP_000393.4:p.Asp473Gly
NM_001042351.2:c.1328A>G NP_001035810.1:p.Asp443Gly
XM_005274657.2:c.1421A>G XP_005274714.1:p.Asp474Gly
XM_005274658.2:c.1331A>G XP_005274715.1:p.Asp444Gly
NM_001360016.2:c.1328A>G MANE Select NP_001346945.1:p.Asp443Gly
NM_001042351.3:c.1328A>G NP_001035810.1:p.Asp443Gly