Canonical Allele Identifier: CA415232704
Gene: G6PD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532278T>G , CM000685.2:g.154532278T>G GRCh38
NC_000023.10:g.153760493T>G , CM000685.1:g.153760493T>G GRCh37
NC_000023.9:g.153413687T>G NCBI36
NG_009015.2:g.20295A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.1367A>C ENSP00000377194.2:p.Asp456Ala
ENST00000439227.6:c.1370A>C ENSP00000395599.2:p.Asp457Ala
ENST00000696420.1:c.1367A>C ENSP00000512615.1:p.Asp456Ala
ENST00000696421.1:c.1367A>C ENSP00000512616.1:p.Asp456Ala
ENST00000696422.1:c.1230A>C
ENST00000696423.1:c.1233A>C
ENST00000696424.1:c.1219A>C ENSP00000512619.1:n.1219A>C
ENST00000696425.1:c.*280A>C ENSP00000512620.1:n.*280A>C
ENST00000696426.1:c.*827A>C ENSP00000512621.1:n.*827A>C
ENST00000696427.1:c.*327A>C ENSP00000512622.1:n.*327A>C
ENST00000696428.1:c.*1209A>C ENSP00000512623.1:n.*1209A>C
ENST00000696429.1:c.1367A>C ENSP00000512624.1:p.Asp456Ala
ENST00000696430.1:c.1367A>C ENSP00000512625.1:p.Asp456Ala
ENST00000393562.10:c.1367A>C MANE Select ENSP00000377192.3:p.Asp456Ala
ENST00000369620.6:c.1505A>C ENSP00000358633.2:p.Asp502Ala
ENST00000393562.6:c.1457A>C ENSP00000377192.2:p.Asp486Ala
ENST00000393564.6:c.1367A>C ENSP00000377194.2:p.Asp456Ala
ENST00000490651.1:n.588A>C
ENST00000621232.4:c.1367A>C ENSP00000483686.1:p.Asp456Ala
NM_000402.4:c.1457A>C NP_000393.4:p.Asp486Ala
NM_001042351.2:c.1367A>C NP_001035810.1:p.Asp456Ala
XM_005274657.2:c.1460A>C XP_005274714.1:p.Asp487Ala
XM_005274658.2:c.1370A>C XP_005274715.1:p.Asp457Ala
NM_001360016.2:c.1367A>C MANE Select NP_001346945.1:p.Asp456Ala
NM_001042351.3:c.1367A>C NP_001035810.1:p.Asp456Ala