Canonical Allele Identifier: CA121012

Gene: G6PD

Linked Data

• ClinVar Variation Id: 10399
• ClinVar RCV Id: RCV000011138 ; RCV000011139 ; RCV000723442
• dbSNP Id: rs137852337
• MyVariant Identifiers: chrX:g.153760649C>G (hg19) ; chrX:g.154532434C>G (hg38)
• PubMed: PMID:6344088

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532434C>G , CM000685.2:g.154532434C>G	GRCh38
NC_000023.10:g.153760649C>G , CM000685.1:g.153760649C>G	GRCh37
NC_000023.9:g.153413843C>G	NCBI36
NG_009015.2:g.20139G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1316G>C	ENSP00000377194.2:p.Arg439Pro
ENST00000439227.6:c.1319G>C	ENSP00000395599.2:p.Arg440Pro
ENST00000696420.1:c.1316G>C	ENSP00000512615.1:p.Arg439Pro
ENST00000696421.1:c.1316G>C	ENSP00000512616.1:p.Arg439Pro
ENST00000696422.1:c.1179G>C
ENST00000696423.1:c.1182G>C
ENST00000696424.1:c.1168G>C	ENSP00000512619.1:n.1168G>C
ENST00000696425.1:c.*229G>C	ENSP00000512620.1:n.*229G>C
ENST00000696426.1:c.*776G>C	ENSP00000512621.1:n.*776G>C
ENST00000696427.1:c.*276G>C	ENSP00000512622.1:n.*276G>C
ENST00000696428.1:c.*1158G>C	ENSP00000512623.1:n.*1158G>C
ENST00000696429.1:c.1316G>C	ENSP00000512624.1:p.Arg439Pro
ENST00000696430.1:c.1316G>C	ENSP00000512625.1:p.Arg439Pro
ENST00000393562.10:c.1316G>C MANE Select	ENSP00000377192.3:p.Arg439Pro
ENST00000369620.6:c.1454G>C	ENSP00000358633.2:p.Arg485Pro
ENST00000393562.6:c.1406G>C	ENSP00000377192.2:p.Arg469Pro
ENST00000393564.6:c.1316G>C	ENSP00000377194.2:p.Arg439Pro
ENST00000490651.1:n.537G>C
ENST00000621232.4:c.1316G>C	ENSP00000483686.1:p.Arg439Pro
NM_000402.4:c.1406G>C	NP_000393.4:p.Arg469Pro
NM_001042351.2:c.1316G>C	NP_001035810.1:p.Arg439Pro
XM_005274657.2:c.1409G>C	XP_005274714.1:p.Arg470Pro
XM_005274658.2:c.1319G>C	XP_005274715.1:p.Arg440Pro
NM_001360016.2:c.1316G>C MANE Select	NP_001346945.1:p.Arg439Pro
NM_001042351.3:c.1316G>C	NP_001035810.1:p.Arg439Pro