Canonical Allele Identifier: CA415234042
Gene: G6PD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532670T>C , CM000685.2:g.154532670T>C GRCh38
NC_000023.10:g.153760885T>C , CM000685.1:g.153760885T>C GRCh37
NC_000023.9:g.153414079T>C NCBI36
NG_009015.2:g.19903A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000393564.7:c.1184A>G ENSP00000377194.2:p.Gln395Arg
ENST00000439227.6:c.1187A>G ENSP00000395599.2:p.Gln396Arg
ENST00000696420.1:c.1184A>G ENSP00000512615.1:p.Gln395Arg
ENST00000696421.1:c.1184A>G ENSP00000512616.1:p.Gln395Arg
ENST00000696422.1:c.1047A>G
ENST00000696423.1:c.1050A>G
ENST00000696424.1:c.1036A>G ENSP00000512619.1:n.1036A>G
ENST00000696425.1:c.*97A>G ENSP00000512620.1:n.*97A>G
ENST00000696426.1:c.*644A>G ENSP00000512621.1:n.*644A>G
ENST00000696427.1:c.*144A>G ENSP00000512622.1:n.*144A>G
ENST00000696428.1:c.*1026A>G ENSP00000512623.1:n.*1026A>G
ENST00000696429.1:c.1184A>G ENSP00000512624.1:p.Gln395Arg
ENST00000696430.1:c.1184A>G ENSP00000512625.1:p.Gln395Arg
ENST00000393562.10:c.1184A>G MANE Select ENSP00000377192.3:p.Gln395Arg
ENST00000369620.6:c.1322A>G ENSP00000358633.2:p.Gln441Arg
ENST00000393562.6:c.1274A>G ENSP00000377192.2:p.Gln425Arg
ENST00000393564.6:c.1184A>G ENSP00000377194.2:p.Gln395Arg
ENST00000490651.1:n.405A>G
ENST00000621232.4:c.1184A>G ENSP00000483686.1:p.Gln395Arg
NM_000402.4:c.1274A>G NP_000393.4:p.Gln425Arg
NM_001042351.2:c.1184A>G NP_001035810.1:p.Gln395Arg
XM_005274657.2:c.1277A>G XP_005274714.1:p.Gln426Arg
XM_005274658.2:c.1187A>G XP_005274715.1:p.Gln396Arg
XM_011531132.1:c.*97A>G XP_011529434.1:n.*97A>G
NM_001360016.2:c.1184A>G MANE Select NP_001346945.1:p.Gln395Arg
NM_001042351.3:c.1184A>G NP_001035810.1:p.Gln395Arg