Canonical Allele Identifier: CA2466723609
Gene: G6PD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154533066C= , CM000685.2:g.154533066C= GRCh38
NC_000023.10:g.153761281C= , CM000685.1:g.153761281C= GRCh37
NC_000023.9:g.153414475C= NCBI36
NG_009015.2:g.19507G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.927G= ENSP00000377194.2:p.Val309=
ENST00000439227.6:c.930G= ENSP00000395599.2:p.Val310=
ENST00000696420.1:c.927G= ENSP00000512615.1:p.Val309=
ENST00000696421.1:c.927G= ENSP00000512616.1:p.Val309=
ENST00000696422.1:c.790G=
ENST00000696423.1:c.793G=
ENST00000696424.1:c.779G= ENSP00000512619.1:n.779G=
ENST00000696425.1:c.865-264G= ENSP00000512620.1:n.865-264G=
ENST00000696426.1:c.*387G= ENSP00000512621.1:n.*387G=
ENST00000696427.1:c.934G= ENSP00000512622.1:p.Gly312=
ENST00000696428.1:c.*769G= ENSP00000512623.1:n.*769G=
ENST00000696429.1:c.927G= ENSP00000512624.1:p.Val309=
ENST00000696430.1:c.927G= ENSP00000512625.1:p.Val309=
ENST00000393562.10:c.927G= MANE Select ENSP00000377192.3:p.Val309=
ENST00000369620.6:c.1065G= ENSP00000358633.2:p.Val355=
ENST00000393562.6:c.1017G= ENSP00000377192.2:p.Val339=
ENST00000393564.6:c.927G= ENSP00000377194.2:p.Val309=
ENST00000439227.5:c.930G= ENSP00000395599.1:p.Val310=
ENST00000440967.5:c.930G= ENSP00000400648.1:p.Val310=
ENST00000490651.1:n.9G=
ENST00000621232.4:c.927G= ENSP00000483686.1:p.Val309=
NM_000402.4:c.1017G= NP_000393.4:p.Val339=
NM_001042351.2:c.927G= NP_001035810.1:p.Val309=
XM_005274657.2:c.1020G= XP_005274714.1:p.Val340=
XM_005274658.2:c.930G= XP_005274715.1:p.Val310=
XM_011531132.1:c.958-264G= XP_011529434.1:n.958-264G=
NM_001360016.2:c.927G= MANE Select NP_001346945.1:p.Val309=
NM_001042351.3:c.927G= NP_001035810.1:p.Val309=