Canonical Allele Identifier: CA415233724

Gene: G6PD

Linked Data

• COSMIC: COSM5656952 ; COSM5656953 ; COSM5656954
• MyVariant Identifiers: chrX:g.153760650G>T (hg19) ; chrX:g.154532435G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532435G>T , CM000685.2:g.154532435G>T	GRCh38
NC_000023.10:g.153760650G>T , CM000685.1:g.153760650G>T	GRCh37
NC_000023.9:g.153413844G>T	NCBI36
NG_009015.2:g.20138C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1315C>A	ENSP00000377194.2:p.Arg439Ser
ENST00000439227.6:c.1318C>A	ENSP00000395599.2:p.Arg440Ser
ENST00000696420.1:c.1315C>A	ENSP00000512615.1:p.Arg439Ser
ENST00000696421.1:c.1315C>A	ENSP00000512616.1:p.Arg439Ser
ENST00000696422.1:c.1178C>A
ENST00000696423.1:c.1181C>A
ENST00000696424.1:c.1167C>A	ENSP00000512619.1:n.1167C>A
ENST00000696425.1:c.*228C>A	ENSP00000512620.1:n.*228C>A
ENST00000696426.1:c.*775C>A	ENSP00000512621.1:n.*775C>A
ENST00000696427.1:c.*275C>A	ENSP00000512622.1:n.*275C>A
ENST00000696428.1:c.*1157C>A	ENSP00000512623.1:n.*1157C>A
ENST00000696429.1:c.1315C>A	ENSP00000512624.1:p.Arg439Ser
ENST00000696430.1:c.1315C>A	ENSP00000512625.1:p.Arg439Ser
ENST00000393562.10:c.1315C>A MANE Select	ENSP00000377192.3:p.Arg439Ser
ENST00000369620.6:c.1453C>A	ENSP00000358633.2:p.Arg485Ser
ENST00000393562.6:c.1405C>A	ENSP00000377192.2:p.Arg469Ser
ENST00000393564.6:c.1315C>A	ENSP00000377194.2:p.Arg439Ser
ENST00000490651.1:n.536C>A
ENST00000621232.4:c.1315C>A	ENSP00000483686.1:p.Arg439Ser
NM_000402.4:c.1405C>A	NP_000393.4:p.Arg469Ser
NM_001042351.2:c.1315C>A	NP_001035810.1:p.Arg439Ser
XM_005274657.2:c.1408C>A	XP_005274714.1:p.Arg470Ser
XM_005274658.2:c.1318C>A	XP_005274715.1:p.Arg440Ser
NM_001360016.2:c.1315C>A MANE Select	NP_001346945.1:p.Arg439Ser
NM_001042351.3:c.1315C>A	NP_001035810.1:p.Arg439Ser