Canonical Allele Identifier: CA120981
Gene: G6PD HGNC NCBI

Linked Data

ClinVar Variation Id: 10381
ClinVar RCV Id: RCV000011108 RCV000066246
dbSNP Id: rs387906468
COSMIC: COSM1118084 COSM1599109 COSM4870784
MyVariant Identifiers: chrX:g.153760967C>T (hg19) chrX:g.154532752C>T (hg38)
PubMed: PMID:1978554 PMID:7160841
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532752C>T , CM000685.2:g.154532752C>T GRCh38
NC_000023.10:g.153760967C>T , CM000685.1:g.153760967C>T GRCh37
NC_000023.9:g.153414161C>T NCBI36
NG_009015.2:g.19821G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000393564.7:c.1102G>A ENSP00000377194.2:p.Glu368Lys
ENST00000439227.6:c.1105G>A ENSP00000395599.2:p.Glu369Lys
ENST00000696420.1:c.1102G>A ENSP00000512615.1:p.Glu368Lys
ENST00000696421.1:c.1102G>A ENSP00000512616.1:p.Glu368Lys
ENST00000696422.1:c.965G>A
ENST00000696423.1:c.968G>A
ENST00000696424.1:c.954G>A ENSP00000512619.1:n.954G>A
ENST00000696425.1:c.*15G>A ENSP00000512620.1:n.*15G>A
ENST00000696426.1:c.*562G>A ENSP00000512621.1:n.*562G>A
ENST00000696427.1:c.*62G>A ENSP00000512622.1:n.*62G>A
ENST00000696428.1:c.*944G>A ENSP00000512623.1:n.*944G>A
ENST00000696429.1:c.1102G>A ENSP00000512624.1:p.Glu368Lys
ENST00000696430.1:c.1102G>A ENSP00000512625.1:p.Glu368Lys
ENST00000393562.10:c.1102G>A MANE Select ENSP00000377192.3:p.Glu368Lys
ENST00000369620.6:c.1240G>A ENSP00000358633.2:p.Glu414Lys
ENST00000393562.6:c.1192G>A ENSP00000377192.2:p.Glu398Lys
ENST00000393564.6:c.1102G>A ENSP00000377194.2:p.Glu368Lys
ENST00000490651.1:n.323G>A
ENST00000621232.4:c.1102G>A ENSP00000483686.1:p.Glu368Lys
NM_000402.4:c.1192G>A NP_000393.4:p.Glu398Lys
NM_001042351.2:c.1102G>A NP_001035810.1:p.Glu368Lys
XM_005274657.2:c.1195G>A XP_005274714.1:p.Glu399Lys
XM_005274658.2:c.1105G>A XP_005274715.1:p.Glu369Lys
XM_011531132.1:c.*15G>A XP_011529434.1:n.*15G>A
NM_001360016.2:c.1102G>A MANE Select NP_001346945.1:p.Glu368Lys
NM_001042351.3:c.1102G>A NP_001035810.1:p.Glu368Lys
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