Canonical Allele Identifier: CA415233960
Gene: G6PD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532637G>A , CM000685.2:g.154532637G>A GRCh38
NC_000023.10:g.153760852G>A , CM000685.1:g.153760852G>A GRCh37
NC_000023.9:g.153414046G>A NCBI36
NG_009015.2:g.19936C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.1217C>T ENSP00000377194.2:p.Thr406Ile
ENST00000439227.6:c.1220C>T ENSP00000395599.2:p.Thr407Ile
ENST00000696420.1:c.1217C>T ENSP00000512615.1:p.Thr406Ile
ENST00000696421.1:c.1217C>T ENSP00000512616.1:p.Thr406Ile
ENST00000696422.1:c.1080C>T
ENST00000696423.1:c.1083C>T
ENST00000696424.1:c.1069C>T ENSP00000512619.1:n.1069C>T
ENST00000696425.1:c.*130C>T ENSP00000512620.1:n.*130C>T
ENST00000696426.1:c.*677C>T ENSP00000512621.1:n.*677C>T
ENST00000696427.1:c.*177C>T ENSP00000512622.1:n.*177C>T
ENST00000696428.1:c.*1059C>T ENSP00000512623.1:n.*1059C>T
ENST00000696429.1:c.1217C>T ENSP00000512624.1:p.Thr406Ile
ENST00000696430.1:c.1217C>T ENSP00000512625.1:p.Thr406Ile
ENST00000393562.10:c.1217C>T MANE Select ENSP00000377192.3:p.Thr406Ile
ENST00000369620.6:c.1355C>T ENSP00000358633.2:p.Thr452Ile
ENST00000393562.6:c.1307C>T ENSP00000377192.2:p.Thr436Ile
ENST00000393564.6:c.1217C>T ENSP00000377194.2:p.Thr406Ile
ENST00000490651.1:n.438C>T
ENST00000621232.4:c.1217C>T ENSP00000483686.1:p.Thr406Ile
NM_000402.4:c.1307C>T NP_000393.4:p.Thr436Ile
NM_001042351.2:c.1217C>T NP_001035810.1:p.Thr406Ile
XM_005274657.2:c.1310C>T XP_005274714.1:p.Thr437Ile
XM_005274658.2:c.1220C>T XP_005274715.1:p.Thr407Ile
XM_011531132.1:c.*130C>T XP_011529434.1:n.*130C>T
NM_001360016.2:c.1217C>T MANE Select NP_001346945.1:p.Thr406Ile
NM_001042351.3:c.1217C>T NP_001035810.1:p.Thr406Ile