Canonical Allele Identifier: CA415234796
Gene: G6PD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154533085A>T , CM000685.2:g.154533085A>T GRCh38
NC_000023.10:g.153761300A>T , CM000685.1:g.153761300A>T GRCh37
NC_000023.9:g.153414494A>T NCBI36
NG_009015.2:g.19488T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.908T>A ENSP00000377194.2:p.Val303Glu
ENST00000439227.6:c.911T>A ENSP00000395599.2:p.Val304Glu
ENST00000696420.1:c.908T>A ENSP00000512615.1:p.Val303Glu
ENST00000696421.1:c.908T>A ENSP00000512616.1:p.Val303Glu
ENST00000696422.1:c.771T>A
ENST00000696423.1:c.774T>A
ENST00000696424.1:c.760T>A ENSP00000512619.1:n.760T>A
ENST00000696425.1:c.865-283T>A ENSP00000512620.1:n.865-283T>A
ENST00000696426.1:c.*368T>A ENSP00000512621.1:n.*368T>A
ENST00000696427.1:c.915T>A ENSP00000512622.1:p.Cys305Ter
ENST00000696428.1:c.*750T>A ENSP00000512623.1:n.*750T>A
ENST00000696429.1:c.908T>A ENSP00000512624.1:p.Val303Glu
ENST00000696430.1:c.908T>A ENSP00000512625.1:p.Val303Glu
ENST00000393562.10:c.908T>A MANE Select ENSP00000377192.3:p.Val303Glu
ENST00000369620.6:c.1046T>A ENSP00000358633.2:p.Val349Glu
ENST00000393562.6:c.998T>A ENSP00000377192.2:p.Val333Glu
ENST00000393564.6:c.908T>A ENSP00000377194.2:p.Val303Glu
ENST00000439227.5:c.911T>A ENSP00000395599.1:p.Val304Glu
ENST00000440967.5:c.911T>A ENSP00000400648.1:p.Val304Glu
ENST00000621232.4:c.908T>A ENSP00000483686.1:p.Val303Glu
NM_000402.4:c.998T>A NP_000393.4:p.Val333Glu
NM_001042351.2:c.908T>A NP_001035810.1:p.Val303Glu
XM_005274657.2:c.1001T>A XP_005274714.1:p.Val334Glu
XM_005274658.2:c.911T>A XP_005274715.1:p.Val304Glu
XM_011531132.1:c.958-283T>A XP_011529434.1:n.958-283T>A
NM_001360016.2:c.908T>A MANE Select NP_001346945.1:p.Val303Glu
NM_001042351.3:c.908T>A NP_001035810.1:p.Val303Glu