Canonical Allele Identifier: CA415233910
Gene: G6PD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532615G>T , CM000685.2:g.154532615G>T GRCh38
NC_000023.10:g.153760830G>T , CM000685.1:g.153760830G>T GRCh37
NC_000023.9:g.153414024G>T NCBI36
NG_009015.2:g.19958C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.1239C>A ENSP00000377194.2:p.Phe413Leu
ENST00000439227.6:c.1242C>A ENSP00000395599.2:p.Phe414Leu
ENST00000696420.1:c.1239C>A ENSP00000512615.1:p.Phe413Leu
ENST00000696421.1:c.1239C>A ENSP00000512616.1:p.Phe413Leu
ENST00000696422.1:c.1102C>A
ENST00000696423.1:c.1105C>A
ENST00000696424.1:c.1091C>A ENSP00000512619.1:n.1091C>A
ENST00000696425.1:c.*152C>A ENSP00000512620.1:n.*152C>A
ENST00000696426.1:c.*699C>A ENSP00000512621.1:n.*699C>A
ENST00000696427.1:c.*199C>A ENSP00000512622.1:n.*199C>A
ENST00000696428.1:c.*1081C>A ENSP00000512623.1:n.*1081C>A
ENST00000696429.1:c.1239C>A ENSP00000512624.1:p.Phe413Leu
ENST00000696430.1:c.1239C>A ENSP00000512625.1:p.Phe413Leu
ENST00000393562.10:c.1239C>A MANE Select ENSP00000377192.3:p.Phe413Leu
ENST00000369620.6:c.1377C>A ENSP00000358633.2:p.Phe459Leu
ENST00000393562.6:c.1329C>A ENSP00000377192.2:p.Phe443Leu
ENST00000393564.6:c.1239C>A ENSP00000377194.2:p.Phe413Leu
ENST00000490651.1:n.460C>A
ENST00000621232.4:c.1239C>A ENSP00000483686.1:p.Phe413Leu
NM_000402.4:c.1329C>A NP_000393.4:p.Phe443Leu
NM_001042351.2:c.1239C>A NP_001035810.1:p.Phe413Leu
XM_005274657.2:c.1332C>A XP_005274714.1:p.Phe444Leu
XM_005274658.2:c.1242C>A XP_005274715.1:p.Phe414Leu
XM_011531132.1:c.*152C>A XP_011529434.1:n.*152C>A
NM_001360016.2:c.1239C>A MANE Select NP_001346945.1:p.Phe413Leu
NM_001042351.3:c.1239C>A NP_001035810.1:p.Phe413Leu