Canonical Allele Identifier: CA033016

Gene: G6PD

Linked Data

• ClinVar Variation Id: 10361
• ClinVar RCV Id: RCV002305425
• PubMed: PMID:5448 ; PMID:669721 ; PMID:903703 ; PMID:1303173 ; PMID:1978554 ; PMID:2253938 ; PMID:2503817 ; PMID:2572288 ; PMID:2836867 ; PMID:2912886 ; PMID:3393536 ; PMID:4388132 ; PMID:5492291 ; PMID:7106752 ; PMID:7291768 ; PMID:10734064

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.[154535277T>C;154536002C>T] , CM000685.2:g.[154535277T>C;154536002C>T]	GRCh38
NC_000023.10:g.[153763492T>C;153764217C>T] , CM000685.1:g.[153763492T>C;153764217C>T]	GRCh37
NC_000023.9:g.[153416686T>C;153417411C>T]	NCBI36
NG_009015.2:g.[16571G>A;17296A>G]

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.[202G>A;376A>G]	ENSP00000377194.2:p.[Val68Met;Asn126Asp]
ENST00000439227.6:c.[202G>A;376A>G]	ENSP00000395599.2:p.[Val68Met;Asn126Asp]
ENST00000696420.1:c.[202G>A;376A>G]	ENSP00000512615.1:p.[Val68Met;Asn126Asp]
ENST00000696421.1:c.[202G>A;376A>G]	ENSP00000512616.1:p.[Val68Met;Asn126Asp]
ENST00000696422.1:c.[82G>A;239A>G]
ENST00000696423.1:c.[82G>A;239A>G]
ENST00000696424.1:c.[82G>A;256A>G]	ENSP00000512619.1:p.[Val28Met;Asn86Asp]
ENST00000696425.1:c.[202G>A;376A>G]	ENSP00000512620.1:p.[Val68Met;Asn126Asp]
ENST00000696426.1:c.[202G>A;376A>G]	ENSP00000512621.1:p.[Val68Met;Asn126Asp]
ENST00000696427.1:c.[202G>A;376A>G]	ENSP00000512622.1:p.[Val68Met;Asn126Asp]
ENST00000696428.1:c.[*44G>A;*218A>G]	ENSP00000512623.1:n.[*44G>A;*218A>G]
ENST00000696429.1:c.[202G>A;376A>G]	ENSP00000512624.1:p.[Val68Met;Asn126Asp]
ENST00000696430.1:c.[202G>A;376A>G]	ENSP00000512625.1:p.[Val68Met;Asn126Asp]
ENST00000696431.1:c.[202G>A;376A>G]	ENSP00000512626.1:p.[Val68Met;Asn126Asp]
ENST00000393562.10:c.[202G>A;376A>G] MANE Select	ENSP00000377192.3:p.[Val68Met;Asn126Asp]
ENST00000369620.6:c.[202G>A;376A>G]	ENSP00000358633.2:p.[Val68Met;Asn126Asp]
ENST00000393562.6:c.[292G>A;466A>G]	ENSP00000377192.2:p.[Val98Met;Asn156Asp]
ENST00000393564.6:c.[202G>A;376A>G]	ENSP00000377194.2:p.[Val68Met;Asn126Asp]
ENST00000433845.1:c.[202G>A;376A>G]	ENSP00000394690.1:p.[Val68Met;Asn126Asp]
ENST00000439227.5:c.[202G>A;376A>G]	ENSP00000395599.1:p.[Val68Met;Asn126Asp]
ENST00000440967.5:c.[202G>A;376A>G]	ENSP00000400648.1:p.[Val68Met;Asn126Asp]
ENST00000497281.5:n.[156G>A;330A>G]
ENST00000621232.4:c.[202G>A;376A>G]	ENSP00000483686.1:p.[Val68Met;Asn126Asp]
NM_000402.4:c.[292G>A;466A>G]	NP_000393.4:p.[Val98Met;Asn156Asp]
NM_001042351.2:c.[202G>A;376A>G]	NP_001035810.1:p.[Val68Met;Asn126Asp]
XM_005274657.2:c.[292G>A;466A>G]	XP_005274714.1:p.[Val98Met;Asn156Asp]
XM_005274658.2:c.[202G>A;376A>G]	XP_005274715.1:p.[Val68Met;Asn126Asp]
XM_011531132.1:c.[292G>A;466A>G]	XP_011529434.1:p.[Val98Met;Asn156Asp]
NM_001360016.2:c.[202G>A;376A>G] MANE Select	NP_001346945.1:p.[Val68Met;Asn126Asp]
NM_001042351.3:c.[202G>A;376A>G]	NP_001035810.1:p.[Val68Met;Asn126Asp]