Canonical Allele Identifier: CA519303485

Gene: G6PD

Linked Data

• MyVariant Identifiers: chrX:g.153761239C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533024C>G , CM000685.2:g.154533024C>G	GRCh38
NC_000023.10:g.153761239C>G , CM000685.1:g.153761239C>G	GRCh37
NC_000023.9:g.153414433C>G	NCBI36
NG_009015.2:g.19549G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.969G>C	ENSP00000377194.2:p.Leu323=
ENST00000439227.6:c.972G>C	ENSP00000395599.2:p.Leu324=
ENST00000696420.1:c.969G>C	ENSP00000512615.1:p.Leu323=
ENST00000696421.1:c.969G>C	ENSP00000512616.1:p.Leu323=
ENST00000696422.1:c.832G>C
ENST00000696423.1:c.835G>C
ENST00000696424.1:c.821G>C	ENSP00000512619.1:n.821G>C
ENST00000696425.1:c.865-222G>C	ENSP00000512620.1:n.865-222G>C
ENST00000696426.1:c.*429G>C	ENSP00000512621.1:n.*429G>C
ENST00000696427.1:c.976G>C	ENSP00000512622.1:p.Gly326Arg
ENST00000696428.1:c.*811G>C	ENSP00000512623.1:n.*811G>C
ENST00000696429.1:c.969G>C	ENSP00000512624.1:p.Leu323=
ENST00000696430.1:c.969G>C	ENSP00000512625.1:p.Leu323=
ENST00000393562.10:c.969G>C MANE Select	ENSP00000377192.3:p.Leu323=
ENST00000369620.6:c.1107G>C	ENSP00000358633.2:p.Leu369=
ENST00000393562.6:c.1059G>C	ENSP00000377192.2:p.Leu353=
ENST00000393564.6:c.969G>C	ENSP00000377194.2:p.Leu323=
ENST00000439227.5:c.972G>C	ENSP00000395599.1:p.Leu324=
ENST00000490651.1:n.51G>C
ENST00000621232.4:c.969G>C	ENSP00000483686.1:p.Leu323=
NM_000402.4:c.1059G>C	NP_000393.4:p.Leu353=
NM_001042351.2:c.969G>C	NP_001035810.1:p.Leu323=
XM_005274657.2:c.1062G>C	XP_005274714.1:p.Leu354=
XM_005274658.2:c.972G>C	XP_005274715.1:p.Leu324=
XM_011531132.1:c.958-222G>C	XP_011529434.1:n.958-222G>C
NM_001360016.2:c.969G>C MANE Select	NP_001346945.1:p.Leu323=
NM_001042351.3:c.969G>C	NP_001035810.1:p.Leu323=