Canonical Allele Identifier: CA337316269
Gene: G6PD HGNC NCBI

Linked Data

ClinVar Variation Id: 804134
ClinVar RCV Id: RCV000991012
dbSNP Id: rs137852325
MyVariant Identifiers: chrX:g.153760877C>T (hg19) chrX:g.154532662C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532662C>T , CM000685.2:g.154532662C>T GRCh38
NC_000023.10:g.153760877C>T , CM000685.1:g.153760877C>T GRCh37
NC_000023.9:g.153414071C>T NCBI36
NG_009015.2:g.19911G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000393564.7:c.1192G>A ENSP00000377194.2:p.Glu398Lys
ENST00000439227.6:c.1195G>A ENSP00000395599.2:p.Glu399Lys
ENST00000696420.1:c.1192G>A ENSP00000512615.1:p.Glu398Lys
ENST00000696421.1:c.1192G>A ENSP00000512616.1:p.Glu398Lys
ENST00000696422.1:c.1055G>A
ENST00000696423.1:c.1058G>A
ENST00000696424.1:c.1044G>A ENSP00000512619.1:n.1044G>A
ENST00000696425.1:c.*105G>A ENSP00000512620.1:n.*105G>A
ENST00000696426.1:c.*652G>A ENSP00000512621.1:n.*652G>A
ENST00000696427.1:c.*152G>A ENSP00000512622.1:n.*152G>A
ENST00000696428.1:c.*1034G>A ENSP00000512623.1:n.*1034G>A
ENST00000696429.1:c.1192G>A ENSP00000512624.1:p.Glu398Lys
ENST00000696430.1:c.1192G>A ENSP00000512625.1:p.Glu398Lys
ENST00000393562.10:c.1192G>A MANE Select ENSP00000377192.3:p.Glu398Lys
ENST00000369620.6:c.1330G>A ENSP00000358633.2:p.Glu444Lys
ENST00000393562.6:c.1282G>A ENSP00000377192.2:p.Glu428Lys
ENST00000393564.6:c.1192G>A ENSP00000377194.2:p.Glu398Lys
ENST00000490651.1:n.413G>A
ENST00000621232.4:c.1192G>A ENSP00000483686.1:p.Glu398Lys
NM_000402.4:c.1282G>A NP_000393.4:p.Glu428Lys
NM_001042351.2:c.1192G>A NP_001035810.1:p.Glu398Lys
XM_005274657.2:c.1285G>A XP_005274714.1:p.Glu429Lys
XM_005274658.2:c.1195G>A XP_005274715.1:p.Glu399Lys
XM_011531132.1:c.*105G>A XP_011529434.1:n.*105G>A
NM_001360016.2:c.1192G>A MANE Select NP_001346945.1:p.Glu398Lys
NM_001042351.3:c.1192G>A NP_001035810.1:p.Glu398Lys
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