Canonical Allele Identifier: CA120953
Gene: G6PD HGNC NCBI

Linked Data

ClinVar Variation Id: 10367
dbSNP Id: rs137852314

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154534495C>T , CM000685.2:g.154534495C>T GRCh38
NC_000023.10:g.153762710C>T , CM000685.1:g.153762710C>T GRCh37
NC_000023.9:g.153415904C>T NCBI36
NG_009015.2:g.18078G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000393564.7:c.487G>A ENSP00000377194.2:p.Gly163Ser
ENST00000439227.6:c.490G>A ENSP00000395599.2:p.Gly164Ser
ENST00000696420.1:c.487G>A ENSP00000512615.1:p.Gly163Ser
ENST00000696421.1:c.487G>A ENSP00000512616.1:p.Gly163Ser
ENST00000696422.1:c.350G>A
ENST00000696423.1:c.353G>A
ENST00000696424.1:c.367G>A ENSP00000512619.1:p.Gly123Ser
ENST00000696425.1:c.487G>A ENSP00000512620.1:p.Gly163Ser
ENST00000696426.1:c.487G>A ENSP00000512621.1:p.Gly163Ser
ENST00000696427.1:c.487G>A ENSP00000512622.1:p.Gly163Ser
ENST00000696428.1:c.*329G>A ENSP00000512623.1:n.*329G>A
ENST00000696429.1:c.487G>A ENSP00000512624.1:p.Gly163Ser
ENST00000696430.1:c.487G>A ENSP00000512625.1:p.Gly163Ser
ENST00000393562.10:c.487G>A MANE Select ENSP00000377192.3:p.Gly163Ser
ENST00000369620.6:c.487G>A ENSP00000358633.2:p.Gly163Ser
ENST00000393562.6:c.577G>A ENSP00000377192.2:p.Gly193Ser
ENST00000393564.6:c.487G>A ENSP00000377194.2:p.Gly163Ser
ENST00000433845.1:c.487G>A ENSP00000394690.1:p.Gly163Ser
ENST00000439227.5:c.490G>A ENSP00000395599.1:p.Gly164Ser
ENST00000440967.5:c.490G>A ENSP00000400648.1:p.Gly164Ser
ENST00000621232.4:c.487G>A ENSP00000483686.1:p.Gly163Ser
NM_000402.4:c.577G>A NP_000393.4:p.Gly193Ser
NM_001042351.2:c.487G>A NP_001035810.1:p.Gly163Ser
XM_005274657.2:c.580G>A XP_005274714.1:p.Gly194Ser
XM_005274658.2:c.490G>A XP_005274715.1:p.Gly164Ser
XM_011531132.1:c.580G>A XP_011529434.1:p.Gly194Ser
NM_001360016.2:c.487G>A MANE Select NP_001346945.1:p.Gly163Ser
NM_001042351.3:c.487G>A NP_001035810.1:p.Gly163Ser