Canonical Allele Identifier: CA120945
Gene: G6PD HGNC NCBI

Linked Data

ClinVar Variation Id: 10364
dbSNP Id: rs137852313

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154535187C>T , CM000685.2:g.154535187C>T GRCh38
NC_000023.10:g.153763402C>T , CM000685.1:g.153763402C>T GRCh37
NC_000023.9:g.153416596C>T NCBI36
NG_009015.2:g.17386G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000393564.7:c.466G>A ENSP00000377194.2:p.Glu156Lys
ENST00000439227.6:c.466G>A ENSP00000395599.2:p.Glu156Lys
ENST00000696420.1:c.466G>A ENSP00000512615.1:p.Glu156Lys
ENST00000696421.1:c.466G>A ENSP00000512616.1:p.Glu156Lys
ENST00000696422.1:c.329G>A
ENST00000696423.1:c.329G>A
ENST00000696424.1:c.346G>A ENSP00000512619.1:p.Glu116Lys
ENST00000696425.1:c.466G>A ENSP00000512620.1:p.Glu156Lys
ENST00000696426.1:c.466G>A ENSP00000512621.1:p.Glu156Lys
ENST00000696427.1:c.466G>A ENSP00000512622.1:p.Glu156Lys
ENST00000696428.1:c.*308G>A ENSP00000512623.1:n.*308G>A
ENST00000696429.1:c.466G>A ENSP00000512624.1:p.Glu156Lys
ENST00000696430.1:c.466G>A ENSP00000512625.1:p.Glu156Lys
ENST00000393562.10:c.466G>A MANE Select ENSP00000377192.3:p.Glu156Lys
ENST00000369620.6:c.466G>A ENSP00000358633.2:p.Glu156Lys
ENST00000393562.6:c.556G>A ENSP00000377192.2:p.Glu186Lys
ENST00000393564.6:c.466G>A ENSP00000377194.2:p.Glu156Lys
ENST00000433845.1:c.466G>A ENSP00000394690.1:p.Glu156Lys
ENST00000439227.5:c.466G>A ENSP00000395599.1:p.Glu156Lys
ENST00000440967.5:c.466G>A ENSP00000400648.1:p.Glu156Lys
ENST00000497281.5:n.420G>A
ENST00000621232.4:c.466G>A ENSP00000483686.1:p.Glu156Lys
NM_000402.4:c.556G>A NP_000393.4:p.Glu186Lys
NM_001042351.2:c.466G>A NP_001035810.1:p.Glu156Lys
XM_005274657.2:c.556G>A XP_005274714.1:p.Glu186Lys
XM_005274658.2:c.466G>A XP_005274715.1:p.Glu156Lys
XM_011531132.1:c.556G>A XP_011529434.1:p.Glu186Lys
NM_001360016.2:c.466G>A MANE Select NP_001346945.1:p.Glu156Lys
NM_001042351.3:c.466G>A NP_001035810.1:p.Glu156Lys