Canonical Allele Identifier: CA415231915

Gene: G6PD

Linked Data

• MyVariant Identifiers: chrX:g.153760253C>T (hg19) ; chrX:g.154532038C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532038C>T , CM000685.2:g.154532038C>T	GRCh38
NC_000023.10:g.153760253C>T , CM000685.1:g.153760253C>T	GRCh37
NC_000023.9:g.153413447C>T	NCBI36
NG_009015.2:g.20535G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1510G>A	ENSP00000377194.2:p.Glu504Lys
ENST00000439227.6:c.1513G>A	ENSP00000395599.2:p.Glu505Lys
ENST00000696420.1:c.1457+150G>A	ENSP00000512615.1:n.1457+150G>A
ENST00000696421.1:c.1457+150G>A	ENSP00000512616.1:n.1457+150G>A
ENST00000696422.1:c.1373G>A
ENST00000696423.1:c.1376G>A
ENST00000696424.1:c.1362G>A	ENSP00000512619.1:n.1362G>A
ENST00000696425.1:c.*423G>A	ENSP00000512620.1:n.*423G>A
ENST00000696426.1:c.*970G>A	ENSP00000512621.1:n.*970G>A
ENST00000696427.1:c.*470G>A	ENSP00000512622.1:n.*470G>A
ENST00000696428.1:c.*1352G>A	ENSP00000512623.1:n.*1352G>A
ENST00000696429.1:c.1510G>A	ENSP00000512624.1:p.Glu504Lys
ENST00000696430.1:c.1510G>A	ENSP00000512625.1:p.Glu504Lys
ENST00000393562.10:c.1510G>A MANE Select	ENSP00000377192.3:p.Glu504Lys
ENST00000369620.6:c.1648G>A	ENSP00000358633.2:p.Glu550Lys
ENST00000393562.6:c.1600G>A	ENSP00000377192.2:p.Glu534Lys
ENST00000393564.6:c.1510G>A	ENSP00000377194.2:p.Glu504Lys
ENST00000621232.4:c.1510G>A	ENSP00000483686.1:p.Glu504Lys
NM_000402.4:c.1600G>A	NP_000393.4:p.Glu534Lys
NM_001042351.2:c.1510G>A	NP_001035810.1:p.Glu504Lys
XM_005274657.2:c.1603G>A	XP_005274714.1:p.Glu535Lys
XM_005274658.2:c.1513G>A	XP_005274715.1:p.Glu505Lys
NM_001360016.2:c.1510G>A MANE Select	NP_001346945.1:p.Glu504Lys
NM_001042351.3:c.1510G>A	NP_001035810.1:p.Glu504Lys