Canonical Allele Identifier: CA2466723836
Gene: G6PD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154533611C= , CM000685.2:g.154533611C= GRCh38
NC_000023.10:g.153761826C= , CM000685.1:g.153761826C= GRCh37
NC_000023.9:g.153415020C= NCBI36
NG_009015.2:g.18962G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.829G= ENSP00000377194.2:p.Ala277=
ENST00000439227.6:c.832G= ENSP00000395599.2:p.Ala278=
ENST00000696420.1:c.829G= ENSP00000512615.1:p.Ala277=
ENST00000696421.1:c.829G= ENSP00000512616.1:p.Ala277=
ENST00000696422.1:c.692G=
ENST00000696423.1:c.695G=
ENST00000696424.1:c.681G= ENSP00000512619.1:p.Pro227=
ENST00000696425.1:c.829G= ENSP00000512620.1:p.Ala277=
ENST00000696426.1:c.829G= ENSP00000512621.1:p.Ala277=
ENST00000696427.1:c.829G= ENSP00000512622.1:p.Ala277=
ENST00000696428.1:c.*671G= ENSP00000512623.1:n.*671G=
ENST00000696429.1:c.829G= ENSP00000512624.1:p.Ala277=
ENST00000696430.1:c.829G= ENSP00000512625.1:p.Ala277=
ENST00000393562.10:c.829G= MANE Select ENSP00000377192.3:p.Ala277=
ENST00000369620.6:c.967G= ENSP00000358633.2:p.Ala323=
ENST00000393562.6:c.919G= ENSP00000377192.2:p.Ala307=
ENST00000393564.6:c.829G= ENSP00000377194.2:p.Ala277=
ENST00000439227.5:c.832G= ENSP00000395599.1:p.Ala278=
ENST00000440967.5:c.832G= ENSP00000400648.1:p.Ala278=
ENST00000489497.1:n.218G=
ENST00000621232.4:c.829G= ENSP00000483686.1:p.Ala277=
NM_000402.4:c.919G= NP_000393.4:p.Ala307=
NM_001042351.2:c.829G= NP_001035810.1:p.Ala277=
XM_005274657.2:c.922G= XP_005274714.1:p.Ala308=
XM_005274658.2:c.832G= XP_005274715.1:p.Ala278=
XM_011531132.1:c.922G= XP_011529434.1:p.Ala308=
NM_001360016.2:c.829G= MANE Select NP_001346945.1:p.Ala277=
NM_001042351.3:c.829G= NP_001035810.1:p.Ala277=