Canonical Allele Identifier: CA415234133
Gene: G6PD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532712A>T , CM000685.2:g.154532712A>T GRCh38
NC_000023.10:g.153760927A>T , CM000685.1:g.153760927A>T GRCh37
NC_000023.9:g.153414121A>T NCBI36
NG_009015.2:g.19861T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.1142T>A ENSP00000377194.2:p.Phe381Tyr
ENST00000439227.6:c.1145T>A ENSP00000395599.2:p.Phe382Tyr
ENST00000696420.1:c.1142T>A ENSP00000512615.1:p.Phe381Tyr
ENST00000696421.1:c.1142T>A ENSP00000512616.1:p.Phe381Tyr
ENST00000696422.1:c.1005T>A
ENST00000696423.1:c.1008T>A
ENST00000696424.1:c.994T>A ENSP00000512619.1:n.994T>A
ENST00000696425.1:c.*55T>A ENSP00000512620.1:n.*55T>A
ENST00000696426.1:c.*602T>A ENSP00000512621.1:n.*602T>A
ENST00000696427.1:c.*102T>A ENSP00000512622.1:n.*102T>A
ENST00000696428.1:c.*984T>A ENSP00000512623.1:n.*984T>A
ENST00000696429.1:c.1142T>A ENSP00000512624.1:p.Phe381Tyr
ENST00000696430.1:c.1142T>A ENSP00000512625.1:p.Phe381Tyr
ENST00000393562.10:c.1142T>A MANE Select ENSP00000377192.3:p.Phe381Tyr
ENST00000369620.6:c.1280T>A ENSP00000358633.2:p.Phe427Tyr
ENST00000393562.6:c.1232T>A ENSP00000377192.2:p.Phe411Tyr
ENST00000393564.6:c.1142T>A ENSP00000377194.2:p.Phe381Tyr
ENST00000490651.1:n.363T>A
ENST00000621232.4:c.1142T>A ENSP00000483686.1:p.Phe381Tyr
NM_000402.4:c.1232T>A NP_000393.4:p.Phe411Tyr
NM_001042351.2:c.1142T>A NP_001035810.1:p.Phe381Tyr
XM_005274657.2:c.1235T>A XP_005274714.1:p.Phe412Tyr
XM_005274658.2:c.1145T>A XP_005274715.1:p.Phe382Tyr
XM_011531132.1:c.*55T>A XP_011529434.1:n.*55T>A
NM_001360016.2:c.1142T>A MANE Select NP_001346945.1:p.Phe381Tyr
NM_001042351.3:c.1142T>A NP_001035810.1:p.Phe381Tyr