Canonical Allele Identifier: CA033261

Gene: G6PD

Linked Data

• ClinVar Variation Id: 10392
• ClinVar RCV Id: RCV000011127
• PubMed: PMID:1353664 ; PMID:4125296

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.[154534390G>A;154534438G>A;154535336G>C] , CM000685.2:g.[154534390G>A;154534438G>A;154535336G>C]	GRCh38
NC_000023.10:g.[153762605G>A;153762653G>A;153763551G>C] , CM000685.1:g.[153762605G>A;153762653G>A;153763551G>C]	GRCh37
NC_000023.9:g.[153415799G>A;153415847G>A;153416745G>C]	NCBI36
NG_009015.2:g.[17237C>G;18135C>T;18183C>T]

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.[317C>G;544C>T;592C>T]	ENSP00000377194.2:p.[Ser106Cys;Arg182Trp;...
ENST00000439227.6:c.[317C>G;547C>T;595C>T]	ENSP00000395599.2:p.[Ser106Cys;Arg183Trp;...
ENST00000696420.1:c.[317C>G;544C>T;592C>T]	ENSP00000512615.1:p.[Ser106Cys;Arg182Trp;...
ENST00000696421.1:c.[317C>G;544C>T;592C>T]	ENSP00000512616.1:p.[Ser106Cys;Arg182Trp;...
ENST00000696422.1:c.[180C>G;407C>T;455C>T]
ENST00000696423.1:c.[180C>G;410C>T;458C>T]
ENST00000696424.1:c.[197C>G;424C>T;472C>T]	ENSP00000512619.1:p.[Ser66Cys;Arg142Trp;A...
ENST00000696425.1:c.[317C>G;544C>T;592C>T]	ENSP00000512620.1:p.[Ser106Cys;Arg182Trp;...
ENST00000696426.1:c.[317C>G;544C>T;592C>T]	ENSP00000512621.1:p.[Ser106Cys;Arg182Trp;...
ENST00000696427.1:c.[317C>G;544C>T;592C>T]	ENSP00000512622.1:p.[Ser106Cys;Arg182Trp;...
ENST00000696428.1:c.[*159C>G;*386C>T;*434C>T]	ENSP00000512623.1:n.[*159C>G;*386C>T;*434...
ENST00000696429.1:c.[317C>G;544C>T;592C>T]	ENSP00000512624.1:p.[Ser106Cys;Arg182Trp;...
ENST00000696430.1:c.[317C>G;544C>T;592C>T]	ENSP00000512625.1:p.[Ser106Cys;Arg182Trp;...
ENST00000393562.10:c.[317C>G;544C>T;592C>T] MANE Select	ENSP00000377192.3:p.[Ser106Cys;Arg182Trp;...
ENST00000369620.6:c.[317C>G;544C>T;592C>T]	ENSP00000358633.2:p.[Ser106Cys;Arg182Trp;...
ENST00000393562.6:c.[407C>G;634C>T;682C>T]	ENSP00000377192.2:p.[Ser136Cys;Arg212Trp;...
ENST00000393564.6:c.[317C>G;544C>T;592C>T]	ENSP00000377194.2:p.[Ser106Cys;Arg182Trp;...
ENST00000433845.1:c.[317C>G;544C>T;592C>T]	ENSP00000394690.1:p.[Ser106Cys;Arg182Trp;...
ENST00000439227.5:c.[317C>G;547C>T;595C>T]	ENSP00000395599.1:p.[Ser106Cys;Arg183Trp;...
ENST00000440967.5:c.[317C>G;547C>T;595C>T]	ENSP00000400648.1:p.[Ser106Cys;Arg183Trp;...
ENST00000621232.4:c.[317C>G;544C>T;592C>T]	ENSP00000483686.1:p.[Ser106Cys;Arg182Trp;...
NM_000402.4:c.[407C>G;634C>T;682C>T]	NP_000393.4:p.[Ser136Cys;Arg212Trp;Arg228...
NM_001042351.2:c.[317C>G;544C>T;592C>T]	NP_001035810.1:p.[Ser106Cys;Arg182Trp;Arg...
XM_005274657.2:c.[407C>G;637C>T;685C>T]	XP_005274714.1:p.[Ser136Cys;Arg213Trp;Arg...
XM_005274658.2:c.[317C>G;547C>T;595C>T]	XP_005274715.1:p.[Ser106Cys;Arg183Trp;Arg...
XM_011531132.1:c.[407C>G;637C>T;685C>T]	XP_011529434.1:p.[Ser136Cys;Arg213Trp;Arg...
NM_001360016.2:c.[317C>G;544C>T;592C>T] MANE Select	NP_001346945.1:p.[Ser106Cys;Arg182Trp;Arg...
NM_001042351.3:c.[317C>G;544C>T;592C>T]	NP_001035810.1:p.[Ser106Cys;Arg182Trp;Arg...