Canonical Allele Identifier: CA519714443

Gene: G6PD

Linked Data

• MyVariant Identifiers: chrX:g.153760821C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532606C>T , CM000685.2:g.154532606C>T	GRCh38
NC_000023.10:g.153760821C>T , CM000685.1:g.153760821C>T	GRCh37
NC_000023.9:g.153414015C>T	NCBI36
NG_009015.2:g.19967G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.1248G>A	ENSP00000377194.2:p.Glu416=
ENST00000439227.6:c.1251G>A	ENSP00000395599.2:p.Glu417=
ENST00000696420.1:c.1248G>A	ENSP00000512615.1:p.Glu416=
ENST00000696421.1:c.1248G>A	ENSP00000512616.1:p.Glu416=
ENST00000696422.1:c.1111G>A
ENST00000696423.1:c.1114G>A
ENST00000696424.1:c.1100G>A	ENSP00000512619.1:n.1100G>A
ENST00000696425.1:c.*161G>A	ENSP00000512620.1:n.*161G>A
ENST00000696426.1:c.*708G>A	ENSP00000512621.1:n.*708G>A
ENST00000696427.1:c.*208G>A	ENSP00000512622.1:n.*208G>A
ENST00000696428.1:c.*1090G>A	ENSP00000512623.1:n.*1090G>A
ENST00000696429.1:c.1248G>A	ENSP00000512624.1:p.Glu416=
ENST00000696430.1:c.1248G>A	ENSP00000512625.1:p.Glu416=
ENST00000393562.10:c.1248G>A MANE Select	ENSP00000377192.3:p.Glu416=
ENST00000369620.6:c.1386G>A	ENSP00000358633.2:p.Glu462=
ENST00000393562.6:c.1338G>A	ENSP00000377192.2:p.Glu446=
ENST00000393564.6:c.1248G>A	ENSP00000377194.2:p.Glu416=
ENST00000490651.1:n.469G>A
ENST00000621232.4:c.1248G>A	ENSP00000483686.1:p.Glu416=
NM_000402.4:c.1338G>A	NP_000393.4:p.Glu446=
NM_001042351.2:c.1248G>A	NP_001035810.1:p.Glu416=
XM_005274657.2:c.1341G>A	XP_005274714.1:p.Glu447=
XM_005274658.2:c.1251G>A	XP_005274715.1:p.Glu417=
XM_011531132.1:c.*161G>A	XP_011529434.1:n.*161G>A
NM_001360016.2:c.1248G>A MANE Select	NP_001346945.1:p.Glu416=
NM_001042351.3:c.1248G>A	NP_001035810.1:p.Glu416=