Canonical Allele Identifier: CA415235233

Gene: G6PD

Linked Data

• ClinVar Variation Id: 1722760
• ClinVar RCV Id: RCV002305870
• MyVariant Identifiers: chrX:g.153761835C>T (hg19) ; chrX:g.154533620C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533620C>T , CM000685.2:g.154533620C>T	GRCh38
NC_000023.10:g.153761835C>T , CM000685.1:g.153761835C>T	GRCh37
NC_000023.9:g.153415029C>T	NCBI36
NG_009015.2:g.18953G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.820G>A	ENSP00000377194.2:p.Glu274Lys
ENST00000439227.6:c.823G>A	ENSP00000395599.2:p.Glu275Lys
ENST00000696420.1:c.820G>A	ENSP00000512615.1:p.Glu274Lys
ENST00000696421.1:c.820G>A	ENSP00000512616.1:p.Glu274Lys
ENST00000696422.1:c.683G>A
ENST00000696423.1:c.686G>A
ENST00000696424.1:c.672G>A	ENSP00000512619.1:p.Trp224Ter
ENST00000696425.1:c.820G>A	ENSP00000512620.1:p.Glu274Lys
ENST00000696426.1:c.820G>A	ENSP00000512621.1:p.Glu274Lys
ENST00000696427.1:c.820G>A	ENSP00000512622.1:p.Glu274Lys
ENST00000696428.1:c.*662G>A	ENSP00000512623.1:n.*662G>A
ENST00000696429.1:c.820G>A	ENSP00000512624.1:p.Glu274Lys
ENST00000696430.1:c.820G>A	ENSP00000512625.1:p.Glu274Lys
ENST00000393562.10:c.820G>A MANE Select	ENSP00000377192.3:p.Glu274Lys
ENST00000369620.6:c.958G>A	ENSP00000358633.2:p.Glu320Lys
ENST00000393562.6:c.910G>A	ENSP00000377192.2:p.Glu304Lys
ENST00000393564.6:c.820G>A	ENSP00000377194.2:p.Glu274Lys
ENST00000439227.5:c.823G>A	ENSP00000395599.1:p.Glu275Lys
ENST00000440967.5:c.823G>A	ENSP00000400648.1:p.Glu275Lys
ENST00000489497.1:n.209G>A
ENST00000621232.4:c.820G>A	ENSP00000483686.1:p.Glu274Lys
NM_000402.4:c.910G>A	NP_000393.4:p.Glu304Lys
NM_001042351.2:c.820G>A	NP_001035810.1:p.Glu274Lys
XM_005274657.2:c.913G>A	XP_005274714.1:p.Glu305Lys
XM_005274658.2:c.823G>A	XP_005274715.1:p.Glu275Lys
XM_011531132.1:c.913G>A	XP_011529434.1:p.Glu305Lys
NM_001360016.2:c.820G>A MANE Select	NP_001346945.1:p.Glu274Lys
NM_001042351.3:c.820G>A	NP_001035810.1:p.Glu274Lys