Canonical Allele Identifier: CA415239656
Gene: G6PD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154535968T>A , CM000685.2:g.154535968T>A GRCh38
NC_000023.10:g.153764183T>A , CM000685.1:g.153764183T>A GRCh37
NC_000023.9:g.153417377T>A NCBI36
NG_009015.2:g.16605A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.236A>T ENSP00000377194.2:p.Asp79Val
ENST00000439227.6:c.236A>T ENSP00000395599.2:p.Asp79Val
ENST00000696420.1:c.236A>T ENSP00000512615.1:p.Asp79Val
ENST00000696421.1:c.236A>T ENSP00000512616.1:p.Asp79Val
ENST00000696422.1:c.116A>T
ENST00000696423.1:c.116A>T
ENST00000696424.1:c.116A>T ENSP00000512619.1:p.Asp39Val
ENST00000696425.1:c.236A>T ENSP00000512620.1:p.Asp79Val
ENST00000696426.1:c.236A>T ENSP00000512621.1:p.Asp79Val
ENST00000696427.1:c.236A>T ENSP00000512622.1:p.Asp79Val
ENST00000696428.1:c.*78A>T ENSP00000512623.1:n.*78A>T
ENST00000696429.1:c.236A>T ENSP00000512624.1:p.Asp79Val
ENST00000696430.1:c.236A>T ENSP00000512625.1:p.Asp79Val
ENST00000696431.1:c.236A>T ENSP00000512626.1:p.Asp79Val
ENST00000393562.10:c.236A>T MANE Select ENSP00000377192.3:p.Asp79Val
ENST00000369620.6:c.236A>T ENSP00000358633.2:p.Asp79Val
ENST00000393562.6:c.326A>T ENSP00000377192.2:p.Asp109Val
ENST00000393564.6:c.236A>T ENSP00000377194.2:p.Asp79Val
ENST00000433845.1:c.236A>T ENSP00000394690.1:p.Asp79Val
ENST00000439227.5:c.236A>T ENSP00000395599.1:p.Asp79Val
ENST00000440967.5:c.236A>T ENSP00000400648.1:p.Asp79Val
ENST00000488434.1:n.190A>T
ENST00000497281.5:n.190A>T
ENST00000621232.4:c.236A>T ENSP00000483686.1:p.Asp79Val
NM_000402.4:c.326A>T NP_000393.4:p.Asp109Val
NM_001042351.2:c.236A>T NP_001035810.1:p.Asp79Val
XM_005274657.2:c.326A>T XP_005274714.1:p.Asp109Val
XM_005274658.2:c.236A>T XP_005274715.1:p.Asp79Val
XM_011531132.1:c.326A>T XP_011529434.1:p.Asp109Val
NM_001360016.2:c.236A>T MANE Select NP_001346945.1:p.Asp79Val
NM_001042351.3:c.236A>T NP_001035810.1:p.Asp79Val