Canonical Allele Identifier: CA415235223

Gene: G6PD

Linked Data

• ClinVar Variation Id: 1722761
• ClinVar RCV Id: RCV002305871
• MyVariant Identifiers: chrX:g.153761834T>A (hg19) ; chrX:g.154533619T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533619T>A , CM000685.2:g.154533619T>A	GRCh38
NC_000023.10:g.153761834T>A , CM000685.1:g.153761834T>A	GRCh37
NC_000023.9:g.153415028T>A	NCBI36
NG_009015.2:g.18954A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.821A>T	ENSP00000377194.2:p.Glu274Val
ENST00000439227.6:c.824A>T	ENSP00000395599.2:p.Glu275Val
ENST00000696420.1:c.821A>T	ENSP00000512615.1:p.Glu274Val
ENST00000696421.1:c.821A>T	ENSP00000512616.1:p.Glu274Val
ENST00000696422.1:c.684A>T
ENST00000696423.1:c.687A>T
ENST00000696424.1:c.673A>T	ENSP00000512619.1:p.Arg225Ter
ENST00000696425.1:c.821A>T	ENSP00000512620.1:p.Glu274Val
ENST00000696426.1:c.821A>T	ENSP00000512621.1:p.Glu274Val
ENST00000696427.1:c.821A>T	ENSP00000512622.1:p.Glu274Val
ENST00000696428.1:c.*663A>T	ENSP00000512623.1:n.*663A>T
ENST00000696429.1:c.821A>T	ENSP00000512624.1:p.Glu274Val
ENST00000696430.1:c.821A>T	ENSP00000512625.1:p.Glu274Val
ENST00000393562.10:c.821A>T MANE Select	ENSP00000377192.3:p.Glu274Val
ENST00000369620.6:c.959A>T	ENSP00000358633.2:p.Glu320Val
ENST00000393562.6:c.911A>T	ENSP00000377192.2:p.Glu304Val
ENST00000393564.6:c.821A>T	ENSP00000377194.2:p.Glu274Val
ENST00000439227.5:c.824A>T	ENSP00000395599.1:p.Glu275Val
ENST00000440967.5:c.824A>T	ENSP00000400648.1:p.Glu275Val
ENST00000489497.1:n.210A>T
ENST00000621232.4:c.821A>T	ENSP00000483686.1:p.Glu274Val
NM_000402.4:c.911A>T	NP_000393.4:p.Glu304Val
NM_001042351.2:c.821A>T	NP_001035810.1:p.Glu274Val
XM_005274657.2:c.914A>T	XP_005274714.1:p.Glu305Val
XM_005274658.2:c.824A>T	XP_005274715.1:p.Glu275Val
XM_011531132.1:c.914A>T	XP_011529434.1:p.Glu305Val
NM_001360016.2:c.821A>T MANE Select	NP_001346945.1:p.Glu274Val
NM_001042351.3:c.821A>T	NP_001035810.1:p.Glu274Val