Canonical Allele Identifier: CA337317049

Gene: G6PD

Linked Data

• ClinVar Variation Id: 431774
• ClinVar RCV Id: RCV001257425
• dbSNP Id: rs387906471
• MyVariant Identifiers: chrX:g.153761796C>T (hg19) ; chrX:g.154533581C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533581C>T , CM000685.2:g.154533581C>T	GRCh38
NC_000023.10:g.153761796C>T , CM000685.1:g.153761796C>T	GRCh37
NC_000023.9:g.153414990C>T	NCBI36
NG_009015.2:g.18992G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.859G>A	ENSP00000377194.2:p.Glu287Lys
ENST00000439227.6:c.862G>A	ENSP00000395599.2:p.Glu288Lys
ENST00000696420.1:c.859G>A	ENSP00000512615.1:p.Glu287Lys
ENST00000696421.1:c.859G>A	ENSP00000512616.1:p.Glu287Lys
ENST00000696422.1:c.722G>A
ENST00000696423.1:c.725G>A
ENST00000696424.1:c.711G>A	ENSP00000512619.1:p.Met237Ile
ENST00000696425.1:c.859G>A	ENSP00000512620.1:p.Glu287Lys
ENST00000696426.1:c.859G>A	ENSP00000512621.1:p.Glu287Lys
ENST00000696427.1:c.859G>A	ENSP00000512622.1:p.Glu287Lys
ENST00000696428.1:c.*701G>A	ENSP00000512623.1:n.*701G>A
ENST00000696429.1:c.859G>A	ENSP00000512624.1:p.Glu287Lys
ENST00000696430.1:c.859G>A	ENSP00000512625.1:p.Glu287Lys
ENST00000393562.10:c.859G>A MANE Select	ENSP00000377192.3:p.Glu287Lys
ENST00000369620.6:c.997G>A	ENSP00000358633.2:p.Glu333Lys
ENST00000393562.6:c.949G>A	ENSP00000377192.2:p.Glu317Lys
ENST00000393564.6:c.859G>A	ENSP00000377194.2:p.Glu287Lys
ENST00000439227.5:c.862G>A	ENSP00000395599.1:p.Glu288Lys
ENST00000440967.5:c.862G>A	ENSP00000400648.1:p.Glu288Lys
ENST00000489497.1:n.248G>A
ENST00000621232.4:c.859G>A	ENSP00000483686.1:p.Glu287Lys
NM_000402.4:c.949G>A	NP_000393.4:p.Glu317Lys
NM_001042351.2:c.859G>A	NP_001035810.1:p.Glu287Lys
XM_005274657.2:c.952G>A	XP_005274714.1:p.Glu318Lys
XM_005274658.2:c.862G>A	XP_005274715.1:p.Glu288Lys
XM_011531132.1:c.952G>A	XP_011529434.1:p.Glu318Lys
NM_001360016.2:c.859G>A MANE Select	NP_001346945.1:p.Glu287Lys
NM_001042351.3:c.859G>A	NP_001035810.1:p.Glu287Lys