Canonical Allele Identifier: CA519303401

Gene: G6PD

Linked Data

• MyVariant Identifiers: chrX:g.153761215C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533000C>G , CM000685.2:g.154533000C>G	GRCh38
NC_000023.10:g.153761215C>G , CM000685.1:g.153761215C>G	GRCh37
NC_000023.9:g.153414409C>G	NCBI36
NG_009015.2:g.19573G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.993G>C	ENSP00000377194.2:p.Gly331=
ENST00000439227.6:c.996G>C	ENSP00000395599.2:p.Gly332=
ENST00000696420.1:c.993G>C	ENSP00000512615.1:p.Gly331=
ENST00000696421.1:c.993G>C	ENSP00000512616.1:p.Gly331=
ENST00000696422.1:c.856G>C
ENST00000696423.1:c.859G>C
ENST00000696424.1:c.845G>C	ENSP00000512619.1:n.845G>C
ENST00000696425.1:c.865-198G>C	ENSP00000512620.1:n.865-198G>C
ENST00000696426.1:c.*453G>C	ENSP00000512621.1:n.*453G>C
ENST00000696427.1:c.1000G>C	ENSP00000512622.1:p.Val334Leu
ENST00000696428.1:c.*835G>C	ENSP00000512623.1:n.*835G>C
ENST00000696429.1:c.993G>C	ENSP00000512624.1:p.Gly331=
ENST00000696430.1:c.993G>C	ENSP00000512625.1:p.Gly331=
ENST00000393562.10:c.993G>C MANE Select	ENSP00000377192.3:p.Gly331=
ENST00000369620.6:c.1131G>C	ENSP00000358633.2:p.Gly377=
ENST00000393562.6:c.1083G>C	ENSP00000377192.2:p.Gly361=
ENST00000393564.6:c.993G>C	ENSP00000377194.2:p.Gly331=
ENST00000439227.5:c.996G>C	ENSP00000395599.1:p.Gly332=
ENST00000490651.1:n.75G>C
ENST00000621232.4:c.993G>C	ENSP00000483686.1:p.Gly331=
NM_000402.4:c.1083G>C	NP_000393.4:p.Gly361=
NM_001042351.2:c.993G>C	NP_001035810.1:p.Gly331=
XM_005274657.2:c.1086G>C	XP_005274714.1:p.Gly362=
XM_005274658.2:c.996G>C	XP_005274715.1:p.Gly332=
XM_011531132.1:c.958-198G>C	XP_011529434.1:n.958-198G>C
NM_001360016.2:c.993G>C MANE Select	NP_001346945.1:p.Gly331=
NM_001042351.3:c.993G>C	NP_001035810.1:p.Gly331=