Canonical Allele Identifier: CA121021
Gene: G6PD HGNC NCBI

Linked Data

ClinVar Variation Id: 10402
dbSNP Id: rs76645461

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154536156A>G , CM000685.2:g.154536156A>G GRCh38
NC_000023.10:g.153764371A>G , CM000685.1:g.153764371A>G GRCh37
NC_000023.9:g.153417565A>G NCBI36
NG_009015.2:g.16417T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000393564.7:c.143T>C ENSP00000377194.2:p.Ile48Thr
ENST00000439227.6:c.143T>C ENSP00000395599.2:p.Ile48Thr
ENST00000696420.1:c.143T>C ENSP00000512615.1:p.Ile48Thr
ENST00000696421.1:c.143T>C ENSP00000512616.1:p.Ile48Thr
ENST00000696422.1:c.23T>C
ENST00000696423.1:c.23T>C
ENST00000696424.1:c.23T>C ENSP00000512619.1:p.Ile8Thr
ENST00000696425.1:c.143T>C ENSP00000512620.1:p.Ile48Thr
ENST00000696426.1:c.143T>C ENSP00000512621.1:p.Ile48Thr
ENST00000696427.1:c.143T>C ENSP00000512622.1:p.Ile48Thr
ENST00000696428.1:c.143T>C ENSP00000512623.1:p.Ile48Thr
ENST00000696429.1:c.143T>C ENSP00000512624.1:p.Ile48Thr
ENST00000696430.1:c.143T>C ENSP00000512625.1:p.Ile48Thr
ENST00000696431.1:c.143T>C ENSP00000512626.1:p.Ile48Thr
ENST00000393562.10:c.143T>C MANE Select ENSP00000377192.3:p.Ile48Thr
ENST00000369620.6:c.143T>C ENSP00000358633.2:p.Ile48Thr
ENST00000393562.6:c.233T>C ENSP00000377192.2:p.Ile78Thr
ENST00000393564.6:c.143T>C ENSP00000377194.2:p.Ile48Thr
ENST00000433845.1:c.143T>C ENSP00000394690.1:p.Ile48Thr
ENST00000439227.5:c.143T>C ENSP00000395599.1:p.Ile48Thr
ENST00000440967.5:c.143T>C ENSP00000400648.1:p.Ile48Thr
ENST00000488434.1:n.97T>C
ENST00000497281.5:n.97T>C
ENST00000621232.4:c.143T>C ENSP00000483686.1:p.Ile48Thr
NM_000402.4:c.233T>C NP_000393.4:p.Ile78Thr
NM_001042351.2:c.143T>C NP_001035810.1:p.Ile48Thr
XM_005274657.2:c.233T>C XP_005274714.1:p.Ile78Thr
XM_005274658.2:c.143T>C XP_005274715.1:p.Ile48Thr
XM_011531132.1:c.233T>C XP_011529434.1:p.Ile78Thr
NM_001360016.2:c.143T>C MANE Select NP_001346945.1:p.Ile48Thr
NM_001042351.3:c.143T>C NP_001035810.1:p.Ile48Thr