Canonical Allele Identifier: CA415234342
Gene: G6PD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532942C>G , CM000685.2:g.154532942C>G GRCh38
NC_000023.10:g.153761157C>G , CM000685.1:g.153761157C>G GRCh37
NC_000023.9:g.153414351C>G NCBI36
NG_009015.2:g.19631G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.1051G>C ENSP00000377194.2:p.Gly351Arg
ENST00000439227.6:c.1054G>C ENSP00000395599.2:p.Gly352Arg
ENST00000696420.1:c.1051G>C ENSP00000512615.1:p.Gly351Arg
ENST00000696421.1:c.1051G>C ENSP00000512616.1:p.Gly351Arg
ENST00000696422.1:c.914G>C
ENST00000696423.1:c.917G>C
ENST00000696424.1:c.903G>C ENSP00000512619.1:n.903G>C
ENST00000696425.1:c.865-140G>C ENSP00000512620.1:n.865-140G>C
ENST00000696426.1:c.*511G>C ENSP00000512621.1:n.*511G>C
ENST00000696427.1:c.*11G>C ENSP00000512622.1:n.*11G>C
ENST00000696428.1:c.*893G>C ENSP00000512623.1:n.*893G>C
ENST00000696429.1:c.1051G>C ENSP00000512624.1:p.Gly351Arg
ENST00000696430.1:c.1051G>C ENSP00000512625.1:p.Gly351Arg
ENST00000393562.10:c.1051G>C MANE Select ENSP00000377192.3:p.Gly351Arg
ENST00000369620.6:c.1189G>C ENSP00000358633.2:p.Gly397Arg
ENST00000393562.6:c.1141G>C ENSP00000377192.2:p.Gly381Arg
ENST00000393564.6:c.1051G>C ENSP00000377194.2:p.Gly351Arg
ENST00000490651.1:n.133G>C
ENST00000621232.4:c.1051G>C ENSP00000483686.1:p.Gly351Arg
NM_000402.4:c.1141G>C NP_000393.4:p.Gly381Arg
NM_001042351.2:c.1051G>C NP_001035810.1:p.Gly351Arg
XM_005274657.2:c.1144G>C XP_005274714.1:p.Gly382Arg
XM_005274658.2:c.1054G>C XP_005274715.1:p.Gly352Arg
XM_011531132.1:c.958-140G>C XP_011529434.1:n.958-140G>C
NM_001360016.2:c.1051G>C MANE Select NP_001346945.1:p.Gly351Arg
NM_001042351.3:c.1051G>C NP_001035810.1:p.Gly351Arg