Canonical Allele Identifier: CA2466723453
Gene: G6PD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532702C= , CM000685.2:g.154532702C= GRCh38
NC_000023.10:g.153760917C= , CM000685.1:g.153760917C= GRCh37
NC_000023.9:g.153414111C= NCBI36
NG_009015.2:g.19871G=

Transcript Alleles

HGVS Amino-acid change
ENST00000393564.7:c.1152G= ENSP00000377194.2:p.Gln384=
ENST00000439227.6:c.1155G= ENSP00000395599.2:p.Gln385=
ENST00000696420.1:c.1152G= ENSP00000512615.1:p.Gln384=
ENST00000696421.1:c.1152G= ENSP00000512616.1:p.Gln384=
ENST00000696422.1:c.1015G=
ENST00000696423.1:c.1018G=
ENST00000696424.1:c.1004G= ENSP00000512619.1:n.1004G=
ENST00000696425.1:c.*65G= ENSP00000512620.1:n.*65G=
ENST00000696426.1:c.*612G= ENSP00000512621.1:n.*612G=
ENST00000696427.1:c.*112G= ENSP00000512622.1:n.*112G=
ENST00000696428.1:c.*994G= ENSP00000512623.1:n.*994G=
ENST00000696429.1:c.1152G= ENSP00000512624.1:p.Gln384=
ENST00000696430.1:c.1152G= ENSP00000512625.1:p.Gln384=
ENST00000393562.10:c.1152G= MANE Select ENSP00000377192.3:p.Gln384=
ENST00000369620.6:c.1290G= ENSP00000358633.2:p.Gln430=
ENST00000393562.6:c.1242G= ENSP00000377192.2:p.Gln414=
ENST00000393564.6:c.1152G= ENSP00000377194.2:p.Gln384=
ENST00000490651.1:n.373G=
ENST00000621232.4:c.1152G= ENSP00000483686.1:p.Gln384=
NM_000402.4:c.1242G= NP_000393.4:p.Gln414=
NM_001042351.2:c.1152G= NP_001035810.1:p.Gln384=
XM_005274657.2:c.1245G= XP_005274714.1:p.Gln415=
XM_005274658.2:c.1155G= XP_005274715.1:p.Gln385=
XM_011531132.1:c.*65G= XP_011529434.1:n.*65G=
NM_001360016.2:c.1152G= MANE Select NP_001346945.1:p.Gln384=
NM_001042351.3:c.1152G= NP_001035810.1:p.Gln384=