Canonical Allele Identifier: CA415233634
Gene: G6PD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532395A>G , CM000685.2:g.154532395A>G GRCh38
NC_000023.10:g.153760610A>G , CM000685.1:g.153760610A>G GRCh37
NC_000023.9:g.153413804A>G NCBI36
NG_009015.2:g.20178T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.1355T>C ENSP00000377194.2:p.Phe452Ser
ENST00000439227.6:c.1358T>C ENSP00000395599.2:p.Phe453Ser
ENST00000696420.1:c.1355T>C ENSP00000512615.1:p.Phe452Ser
ENST00000696421.1:c.1355T>C ENSP00000512616.1:p.Phe452Ser
ENST00000696422.1:c.1218T>C
ENST00000696423.1:c.1221T>C
ENST00000696424.1:c.1207T>C ENSP00000512619.1:n.1207T>C
ENST00000696425.1:c.*268T>C ENSP00000512620.1:n.*268T>C
ENST00000696426.1:c.*815T>C ENSP00000512621.1:n.*815T>C
ENST00000696427.1:c.*315T>C ENSP00000512622.1:n.*315T>C
ENST00000696428.1:c.*1197T>C ENSP00000512623.1:n.*1197T>C
ENST00000696429.1:c.1355T>C ENSP00000512624.1:p.Phe452Ser
ENST00000696430.1:c.1355T>C ENSP00000512625.1:p.Phe452Ser
ENST00000393562.10:c.1355T>C MANE Select ENSP00000377192.3:p.Phe452Ser
ENST00000369620.6:c.1493T>C ENSP00000358633.2:p.Phe498Ser
ENST00000393562.6:c.1445T>C ENSP00000377192.2:p.Phe482Ser
ENST00000393564.6:c.1355T>C ENSP00000377194.2:p.Phe452Ser
ENST00000490651.1:n.576T>C
ENST00000621232.4:c.1355T>C ENSP00000483686.1:p.Phe452Ser
NM_000402.4:c.1445T>C NP_000393.4:p.Phe482Ser
NM_001042351.2:c.1355T>C NP_001035810.1:p.Phe452Ser
XM_005274657.2:c.1448T>C XP_005274714.1:p.Phe483Ser
XM_005274658.2:c.1358T>C XP_005274715.1:p.Phe453Ser
NM_001360016.2:c.1355T>C MANE Select NP_001346945.1:p.Phe452Ser
NM_001042351.3:c.1355T>C NP_001035810.1:p.Phe452Ser