Canonical Allele Identifier: CA415234471

Gene: G6PD

Linked Data

• dbSNP Id: rs2070359649
• gnomAD v4: X-154533002-C-T
• MyVariant Identifiers: chrX:g.153761217C>T (hg19) ; chrX:g.154533002C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533002C>T , CM000685.2:g.154533002C>T	GRCh38
NC_000023.10:g.153761217C>T , CM000685.1:g.153761217C>T	GRCh37
NC_000023.9:g.153414411C>T	NCBI36
NG_009015.2:g.19571G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.991G>A	ENSP00000377194.2:p.Gly331Arg
ENST00000439227.6:c.994G>A	ENSP00000395599.2:p.Gly332Arg
ENST00000696420.1:c.991G>A	ENSP00000512615.1:p.Gly331Arg
ENST00000696421.1:c.991G>A	ENSP00000512616.1:p.Gly331Arg
ENST00000696422.1:c.854G>A
ENST00000696423.1:c.857G>A
ENST00000696424.1:c.843G>A	ENSP00000512619.1:n.843G>A
ENST00000696425.1:c.865-200G>A	ENSP00000512620.1:n.865-200G>A
ENST00000696426.1:c.*451G>A	ENSP00000512621.1:n.*451G>A
ENST00000696427.1:c.998G>A	ENSP00000512622.1:p.Arg333Gln
ENST00000696428.1:c.*833G>A	ENSP00000512623.1:n.*833G>A
ENST00000696429.1:c.991G>A	ENSP00000512624.1:p.Gly331Arg
ENST00000696430.1:c.991G>A	ENSP00000512625.1:p.Gly331Arg
ENST00000393562.10:c.991G>A MANE Select	ENSP00000377192.3:p.Gly331Arg
ENST00000369620.6:c.1129G>A	ENSP00000358633.2:p.Gly377Arg
ENST00000393562.6:c.1081G>A	ENSP00000377192.2:p.Gly361Arg
ENST00000393564.6:c.991G>A	ENSP00000377194.2:p.Gly331Arg
ENST00000439227.5:c.994G>A	ENSP00000395599.1:p.Gly332Arg
ENST00000490651.1:n.73G>A
ENST00000621232.4:c.991G>A	ENSP00000483686.1:p.Gly331Arg
NM_000402.4:c.1081G>A	NP_000393.4:p.Gly361Arg
NM_001042351.2:c.991G>A	NP_001035810.1:p.Gly331Arg
XM_005274657.2:c.1084G>A	XP_005274714.1:p.Gly362Arg
XM_005274658.2:c.994G>A	XP_005274715.1:p.Gly332Arg
XM_011531132.1:c.958-200G>A	XP_011529434.1:n.958-200G>A
NM_001360016.2:c.991G>A MANE Select	NP_001346945.1:p.Gly331Arg
NM_001042351.3:c.991G>A	NP_001035810.1:p.Gly331Arg