Canonical Allele Identifier: CA415232586
Gene: G6PD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532254A>C , CM000685.2:g.154532254A>C GRCh38
NC_000023.10:g.153760469A>C , CM000685.1:g.153760469A>C GRCh37
NC_000023.9:g.153413663A>C NCBI36
NG_009015.2:g.20319T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.1391T>G ENSP00000377194.2:p.Ile464Ser
ENST00000439227.6:c.1394T>G ENSP00000395599.2:p.Ile465Ser
ENST00000696420.1:c.1391T>G ENSP00000512615.1:p.Ile464Ser
ENST00000696421.1:c.1391T>G ENSP00000512616.1:p.Ile464Ser
ENST00000696422.1:c.1254T>G
ENST00000696423.1:c.1257T>G
ENST00000696424.1:c.1243T>G ENSP00000512619.1:n.1243T>G
ENST00000696425.1:c.*304T>G ENSP00000512620.1:n.*304T>G
ENST00000696426.1:c.*851T>G ENSP00000512621.1:n.*851T>G
ENST00000696427.1:c.*351T>G ENSP00000512622.1:n.*351T>G
ENST00000696428.1:c.*1233T>G ENSP00000512623.1:n.*1233T>G
ENST00000696429.1:c.1391T>G ENSP00000512624.1:p.Ile464Ser
ENST00000696430.1:c.1391T>G ENSP00000512625.1:p.Ile464Ser
ENST00000393562.10:c.1391T>G MANE Select ENSP00000377192.3:p.Ile464Ser
ENST00000369620.6:c.1529T>G ENSP00000358633.2:p.Ile510Ser
ENST00000393562.6:c.1481T>G ENSP00000377192.2:p.Ile494Ser
ENST00000393564.6:c.1391T>G ENSP00000377194.2:p.Ile464Ser
ENST00000490651.1:n.612T>G
ENST00000621232.4:c.1391T>G ENSP00000483686.1:p.Ile464Ser
NM_000402.4:c.1481T>G NP_000393.4:p.Ile494Ser
NM_001042351.2:c.1391T>G NP_001035810.1:p.Ile464Ser
XM_005274657.2:c.1484T>G XP_005274714.1:p.Ile495Ser
XM_005274658.2:c.1394T>G XP_005274715.1:p.Ile465Ser
NM_001360016.2:c.1391T>G MANE Select NP_001346945.1:p.Ile464Ser
NM_001042351.3:c.1391T>G NP_001035810.1:p.Ile464Ser