Canonical Allele Identifier: CA519714391

Gene: G6PD

Linked Data

• dbSNP Id: rs2070349408
• MyVariant Identifiers: chrX:g.153760639C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532424C>G , CM000685.2:g.154532424C>G	GRCh38
NC_000023.10:g.153760639C>G , CM000685.1:g.153760639C>G	GRCh37
NC_000023.9:g.153413833C>G	NCBI36
NG_009015.2:g.20149G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.1326G>C	ENSP00000377194.2:p.Leu442=
ENST00000439227.6:c.1329G>C	ENSP00000395599.2:p.Leu443=
ENST00000696420.1:c.1326G>C	ENSP00000512615.1:p.Leu442=
ENST00000696421.1:c.1326G>C	ENSP00000512616.1:p.Leu442=
ENST00000696422.1:c.1189G>C
ENST00000696423.1:c.1192G>C
ENST00000696424.1:c.1178G>C	ENSP00000512619.1:n.1178G>C
ENST00000696425.1:c.*239G>C	ENSP00000512620.1:n.*239G>C
ENST00000696426.1:c.*786G>C	ENSP00000512621.1:n.*786G>C
ENST00000696427.1:c.*286G>C	ENSP00000512622.1:n.*286G>C
ENST00000696428.1:c.*1168G>C	ENSP00000512623.1:n.*1168G>C
ENST00000696429.1:c.1326G>C	ENSP00000512624.1:p.Leu442=
ENST00000696430.1:c.1326G>C	ENSP00000512625.1:p.Leu442=
ENST00000393562.10:c.1326G>C MANE Select	ENSP00000377192.3:p.Leu442=
ENST00000369620.6:c.1464G>C	ENSP00000358633.2:p.Leu488=
ENST00000393562.6:c.1416G>C	ENSP00000377192.2:p.Leu472=
ENST00000393564.6:c.1326G>C	ENSP00000377194.2:p.Leu442=
ENST00000490651.1:n.547G>C
ENST00000621232.4:c.1326G>C	ENSP00000483686.1:p.Leu442=
NM_000402.4:c.1416G>C	NP_000393.4:p.Leu472=
NM_001042351.2:c.1326G>C	NP_001035810.1:p.Leu442=
XM_005274657.2:c.1419G>C	XP_005274714.1:p.Leu473=
XM_005274658.2:c.1329G>C	XP_005274715.1:p.Leu443=
NM_001360016.2:c.1326G>C MANE Select	NP_001346945.1:p.Leu442=
NM_001042351.3:c.1326G>C	NP_001035810.1:p.Leu442=