Canonical Allele Identifier: CA519302940

Gene: G6PD

Linked Data

• dbSNP Id: rs2148328397
• MyVariant Identifiers: chrX:g.153760456C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532241C>T , CM000685.2:g.154532241C>T	GRCh38
NC_000023.10:g.153760456C>T , CM000685.1:g.153760456C>T	GRCh37
NC_000023.9:g.153413650C>T	NCBI36
NG_009015.2:g.20332G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1404G>A	ENSP00000377194.2:p.Leu468=
ENST00000439227.6:c.1407G>A	ENSP00000395599.2:p.Leu469=
ENST00000696420.1:c.1404G>A	ENSP00000512615.1:p.Leu468=
ENST00000696421.1:c.1404G>A	ENSP00000512616.1:p.Leu468=
ENST00000696422.1:c.1267G>A
ENST00000696423.1:c.1270G>A
ENST00000696424.1:c.1256G>A	ENSP00000512619.1:n.1256G>A
ENST00000696425.1:c.*317G>A	ENSP00000512620.1:n.*317G>A
ENST00000696426.1:c.*864G>A	ENSP00000512621.1:n.*864G>A
ENST00000696427.1:c.*364G>A	ENSP00000512622.1:n.*364G>A
ENST00000696428.1:c.*1246G>A	ENSP00000512623.1:n.*1246G>A
ENST00000696429.1:c.1404G>A	ENSP00000512624.1:p.Leu468=
ENST00000696430.1:c.1404G>A	ENSP00000512625.1:p.Leu468=
ENST00000393562.10:c.1404G>A MANE Select	ENSP00000377192.3:p.Leu468=
ENST00000369620.6:c.1542G>A	ENSP00000358633.2:p.Leu514=
ENST00000393562.6:c.1494G>A	ENSP00000377192.2:p.Leu498=
ENST00000393564.6:c.1404G>A	ENSP00000377194.2:p.Leu468=
ENST00000490651.1:n.625G>A
ENST00000621232.4:c.1404G>A	ENSP00000483686.1:p.Leu468=
NM_000402.4:c.1494G>A	NP_000393.4:p.Leu498=
NM_001042351.2:c.1404G>A	NP_001035810.1:p.Leu468=
XM_005274657.2:c.1497G>A	XP_005274714.1:p.Leu499=
XM_005274658.2:c.1407G>A	XP_005274715.1:p.Leu469=
NM_001360016.2:c.1404G>A MANE Select	NP_001346945.1:p.Leu468=
NM_001042351.3:c.1404G>A	NP_001035810.1:p.Leu468=