Canonical Allele Identifier: CA519303425

Gene: G6PD

Linked Data

• COSMIC: COSM6315251 ; COSM6315252 ; COSM6315253
• MyVariant Identifiers: chrX:g.153761221G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533006G>T , CM000685.2:g.154533006G>T	GRCh38
NC_000023.10:g.153761221G>T , CM000685.1:g.153761221G>T	GRCh37
NC_000023.9:g.153414415G>T	NCBI36
NG_009015.2:g.19567C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.987C>A	ENSP00000377194.2:p.Pro329=
ENST00000439227.6:c.990C>A	ENSP00000395599.2:p.Pro330=
ENST00000696420.1:c.987C>A	ENSP00000512615.1:p.Pro329=
ENST00000696421.1:c.987C>A	ENSP00000512616.1:p.Pro329=
ENST00000696422.1:c.850C>A
ENST00000696423.1:c.853C>A
ENST00000696424.1:c.839C>A	ENSP00000512619.1:n.839C>A
ENST00000696425.1:c.865-204C>A	ENSP00000512620.1:n.865-204C>A
ENST00000696426.1:c.*447C>A	ENSP00000512621.1:n.*447C>A
ENST00000696427.1:c.994C>A	ENSP00000512622.1:p.Pro332Thr
ENST00000696428.1:c.*829C>A	ENSP00000512623.1:n.*829C>A
ENST00000696429.1:c.987C>A	ENSP00000512624.1:p.Pro329=
ENST00000696430.1:c.987C>A	ENSP00000512625.1:p.Pro329=
ENST00000393562.10:c.987C>A MANE Select	ENSP00000377192.3:p.Pro329=
ENST00000369620.6:c.1125C>A	ENSP00000358633.2:p.Pro375=
ENST00000393562.6:c.1077C>A	ENSP00000377192.2:p.Pro359=
ENST00000393564.6:c.987C>A	ENSP00000377194.2:p.Pro329=
ENST00000439227.5:c.990C>A	ENSP00000395599.1:p.Pro330=
ENST00000490651.1:n.69C>A
ENST00000621232.4:c.987C>A	ENSP00000483686.1:p.Pro329=
NM_000402.4:c.1077C>A	NP_000393.4:p.Pro359=
NM_001042351.2:c.987C>A	NP_001035810.1:p.Pro329=
XM_005274657.2:c.1080C>A	XP_005274714.1:p.Pro360=
XM_005274658.2:c.990C>A	XP_005274715.1:p.Pro330=
XM_011531132.1:c.958-204C>A	XP_011529434.1:n.958-204C>A
NM_001360016.2:c.987C>A MANE Select	NP_001346945.1:p.Pro329=
NM_001042351.3:c.987C>A	NP_001035810.1:p.Pro329=