Canonical Allele Identifier: CA2466723451
Gene: G6PD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532698T= , CM000685.2:g.154532698T= GRCh38
NC_000023.10:g.153760913T= , CM000685.1:g.153760913T= GRCh37
NC_000023.9:g.153414107T= NCBI36
NG_009015.2:g.19875A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.1156A= ENSP00000377194.2:p.Lys386=
ENST00000439227.6:c.1159A= ENSP00000395599.2:p.Lys387=
ENST00000696420.1:c.1156A= ENSP00000512615.1:p.Lys386=
ENST00000696421.1:c.1156A= ENSP00000512616.1:p.Lys386=
ENST00000696422.1:c.1019A=
ENST00000696423.1:c.1022A=
ENST00000696424.1:c.1008A= ENSP00000512619.1:n.1008A=
ENST00000696425.1:c.*69A= ENSP00000512620.1:n.*69A=
ENST00000696426.1:c.*616A= ENSP00000512621.1:n.*616A=
ENST00000696427.1:c.*116A= ENSP00000512622.1:n.*116A=
ENST00000696428.1:c.*998A= ENSP00000512623.1:n.*998A=
ENST00000696429.1:c.1156A= ENSP00000512624.1:p.Lys386=
ENST00000696430.1:c.1156A= ENSP00000512625.1:p.Lys386=
ENST00000393562.10:c.1156A= MANE Select ENSP00000377192.3:p.Lys386=
ENST00000369620.6:c.1294A= ENSP00000358633.2:p.Lys432=
ENST00000393562.6:c.1246A= ENSP00000377192.2:p.Lys416=
ENST00000393564.6:c.1156A= ENSP00000377194.2:p.Lys386=
ENST00000490651.1:n.377A=
ENST00000621232.4:c.1156A= ENSP00000483686.1:p.Lys386=
NM_000402.4:c.1246A= NP_000393.4:p.Lys416=
NM_001042351.2:c.1156A= NP_001035810.1:p.Lys386=
XM_005274657.2:c.1249A= XP_005274714.1:p.Lys417=
XM_005274658.2:c.1159A= XP_005274715.1:p.Lys387=
XM_011531132.1:c.*69A= XP_011529434.1:n.*69A=
NM_001360016.2:c.1156A= MANE Select NP_001346945.1:p.Lys386=
NM_001042351.3:c.1156A= NP_001035810.1:p.Lys386=