Canonical Allele Identifier: CA415233685
Gene: G6PD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532415G>T , CM000685.2:g.154532415G>T GRCh38
NC_000023.10:g.153760630G>T , CM000685.1:g.153760630G>T GRCh37
NC_000023.9:g.153413824G>T NCBI36
NG_009015.2:g.20158C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000393564.7:c.1335C>A ENSP00000377194.2:p.Phe445Leu
ENST00000439227.6:c.1338C>A ENSP00000395599.2:p.Phe446Leu
ENST00000696420.1:c.1335C>A ENSP00000512615.1:p.Phe445Leu
ENST00000696421.1:c.1335C>A ENSP00000512616.1:p.Phe445Leu
ENST00000696422.1:c.1198C>A
ENST00000696423.1:c.1201C>A
ENST00000696424.1:c.1187C>A ENSP00000512619.1:n.1187C>A
ENST00000696425.1:c.*248C>A ENSP00000512620.1:n.*248C>A
ENST00000696426.1:c.*795C>A ENSP00000512621.1:n.*795C>A
ENST00000696427.1:c.*295C>A ENSP00000512622.1:n.*295C>A
ENST00000696428.1:c.*1177C>A ENSP00000512623.1:n.*1177C>A
ENST00000696429.1:c.1335C>A ENSP00000512624.1:p.Phe445Leu
ENST00000696430.1:c.1335C>A ENSP00000512625.1:p.Phe445Leu
ENST00000393562.10:c.1335C>A MANE Select ENSP00000377192.3:p.Phe445Leu
ENST00000369620.6:c.1473C>A ENSP00000358633.2:p.Phe491Leu
ENST00000393562.6:c.1425C>A ENSP00000377192.2:p.Phe475Leu
ENST00000393564.6:c.1335C>A ENSP00000377194.2:p.Phe445Leu
ENST00000490651.1:n.556C>A
ENST00000621232.4:c.1335C>A ENSP00000483686.1:p.Phe445Leu
NM_000402.4:c.1425C>A NP_000393.4:p.Phe475Leu
NM_001042351.2:c.1335C>A NP_001035810.1:p.Phe445Leu
XM_005274657.2:c.1428C>A XP_005274714.1:p.Phe476Leu
XM_005274658.2:c.1338C>A XP_005274715.1:p.Phe446Leu
NM_001360016.2:c.1335C>A MANE Select NP_001346945.1:p.Phe445Leu
NM_001042351.3:c.1335C>A NP_001035810.1:p.Phe445Leu