Canonical Allele Identifier: CA121045
Gene: G6PD HGNC NCBI

Linked Data

ClinVar Variation Id: 10412
dbSNP Id: rs137852346

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154533634C>T , CM000685.2:g.154533634C>T GRCh38
NC_000023.10:g.153761849C>T , CM000685.1:g.153761849C>T GRCh37
NC_000023.9:g.153415043C>T NCBI36
NG_009015.2:g.18939G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000393564.7:c.806G>A ENSP00000377194.2:p.Cys269Tyr
ENST00000439227.6:c.809G>A ENSP00000395599.2:p.Cys270Tyr
ENST00000696420.1:c.806G>A ENSP00000512615.1:p.Cys269Tyr
ENST00000696421.1:c.806G>A ENSP00000512616.1:p.Cys269Tyr
ENST00000696422.1:c.669G>A
ENST00000696423.1:c.672G>A
ENST00000696424.1:c.658G>A ENSP00000512619.1:p.Val220Ile
ENST00000696425.1:c.806G>A ENSP00000512620.1:p.Cys269Tyr
ENST00000696426.1:c.806G>A ENSP00000512621.1:p.Cys269Tyr
ENST00000696427.1:c.806G>A ENSP00000512622.1:p.Cys269Tyr
ENST00000696428.1:c.*648G>A ENSP00000512623.1:n.*648G>A
ENST00000696429.1:c.806G>A ENSP00000512624.1:p.Cys269Tyr
ENST00000696430.1:c.806G>A ENSP00000512625.1:p.Cys269Tyr
ENST00000393562.10:c.806G>A MANE Select ENSP00000377192.3:p.Cys269Tyr
ENST00000369620.6:c.944G>A ENSP00000358633.2:p.Cys315Tyr
ENST00000393562.6:c.896G>A ENSP00000377192.2:p.Cys299Tyr
ENST00000393564.6:c.806G>A ENSP00000377194.2:p.Cys269Tyr
ENST00000439227.5:c.809G>A ENSP00000395599.1:p.Cys270Tyr
ENST00000440967.5:c.809G>A ENSP00000400648.1:p.Cys270Tyr
ENST00000489497.1:n.195G>A
ENST00000621232.4:c.806G>A ENSP00000483686.1:p.Cys269Tyr
NM_000402.4:c.896G>A NP_000393.4:p.Cys299Tyr
NM_001042351.2:c.806G>A NP_001035810.1:p.Cys269Tyr
XM_005274657.2:c.899G>A XP_005274714.1:p.Cys300Tyr
XM_005274658.2:c.809G>A XP_005274715.1:p.Cys270Tyr
XM_011531132.1:c.899G>A XP_011529434.1:p.Cys300Tyr
NM_001360016.2:c.806G>A MANE Select NP_001346945.1:p.Cys269Tyr
NM_001042351.3:c.806G>A NP_001035810.1:p.Cys269Tyr