Canonical Allele Identifier: CA415234273
Gene: G6PD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532775T>G , CM000685.2:g.154532775T>G GRCh38
NC_000023.10:g.153760990T>G , CM000685.1:g.153760990T>G GRCh37
NC_000023.9:g.153414184T>G NCBI36
NG_009015.2:g.19798A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.1079A>C ENSP00000377194.2:p.Lys360Thr
ENST00000439227.6:c.1082A>C ENSP00000395599.2:p.Lys361Thr
ENST00000696420.1:c.1079A>C ENSP00000512615.1:p.Lys360Thr
ENST00000696421.1:c.1079A>C ENSP00000512616.1:p.Lys360Thr
ENST00000696422.1:c.942A>C
ENST00000696423.1:c.945A>C
ENST00000696424.1:c.931A>C ENSP00000512619.1:n.931A>C
ENST00000696425.1:c.892A>C ENSP00000512620.1:p.Arg298=
ENST00000696426.1:c.*539A>C ENSP00000512621.1:n.*539A>C
ENST00000696427.1:c.*39A>C ENSP00000512622.1:n.*39A>C
ENST00000696428.1:c.*921A>C ENSP00000512623.1:n.*921A>C
ENST00000696429.1:c.1079A>C ENSP00000512624.1:p.Lys360Thr
ENST00000696430.1:c.1079A>C ENSP00000512625.1:p.Lys360Thr
ENST00000393562.10:c.1079A>C MANE Select ENSP00000377192.3:p.Lys360Thr
ENST00000369620.6:c.1217A>C ENSP00000358633.2:p.Lys406Thr
ENST00000393562.6:c.1169A>C ENSP00000377192.2:p.Lys390Thr
ENST00000393564.6:c.1079A>C ENSP00000377194.2:p.Lys360Thr
ENST00000490651.1:n.300A>C
ENST00000621232.4:c.1079A>C ENSP00000483686.1:p.Lys360Thr
NM_000402.4:c.1169A>C NP_000393.4:p.Lys390Thr
NM_001042351.2:c.1079A>C NP_001035810.1:p.Lys360Thr
XM_005274657.2:c.1172A>C XP_005274714.1:p.Lys391Thr
XM_005274658.2:c.1082A>C XP_005274715.1:p.Lys361Thr
XM_011531132.1:c.985A>C XP_011529434.1:p.Arg329=
NM_001360016.2:c.1079A>C MANE Select NP_001346945.1:p.Lys360Thr
NM_001042351.3:c.1079A>C NP_001035810.1:p.Lys360Thr