Canonical Allele Identifier: CA2580573389

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.[154532590G>C;154535277T>C;154536002C>T] , CM000685.2:g.[154532590G>C;154535277T>C;154536002C>T]	GRCh38
NC_000023.10:g.[153760805G>C;153763492T>C;153764217C>T] , CM000685.1:g.[153760805G>C;153763492T>C;153764217C>T]	GRCh37
NC_000023.9:g.[153413999G>C;153416686T>C;153417411C>T]	NCBI36
NG_009015.2:g.[16571G>A;17296A>G;19983C>G]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.[202G>A;376A>G;1264C>G]	ENSP00000377194.2:p.[Val68Met;Asn126Asp;Leu422Val]
ENST00000439227.6:c.[202G>A;376A>G;1267C>G]	ENSP00000395599.2:p.[Val68Met;Asn126Asp;Leu423Val]
ENST00000696420.1:c.[202G>A;376A>G;1264C>G]	ENSP00000512615.1:p.[Val68Met;Asn126Asp;Leu422Val]
ENST00000696421.1:c.[202G>A;376A>G;1264C>G]	ENSP00000512616.1:p.[Val68Met;Asn126Asp;Leu422Val]
ENST00000696422.1:c.[82G>A;239A>G;1127C>G]
ENST00000696423.1:c.[82G>A;239A>G;1130C>G]
ENST00000696424.1:c.[82G>A;256A>G;1116C>G]	ENSP00000512619.1:[p.Val28Met;p.Asn86Asp;n.1116C>G]
ENST00000696425.1:c.[202G>A;376A>G;*177C>G]	ENSP00000512620.1:[p.Val68Met;p.Asn126Asp;n.*177C>G]
ENST00000696426.1:c.[202G>A;376A>G;*724C>G]	ENSP00000512621.1:[p.Val68Met;p.Asn126Asp;n.*724C>G]
ENST00000696427.1:c.[202G>A;376A>G;*224C>G]	ENSP00000512622.1:[p.Val68Met;p.Asn126Asp;n.*224C>G]
ENST00000696428.1:c.[*44G>A;*218A>G;*1106C>G]	ENSP00000512623.1:n.[*44G>A;*218A>G;*1106C>G]
ENST00000696429.1:c.[202G>A;376A>G;1264C>G]	ENSP00000512624.1:p.[Val68Met;Asn126Asp;Leu422Val]
ENST00000696430.1:c.[202G>A;376A>G;1264C>G]	ENSP00000512625.1:p.[Val68Met;Asn126Asp;Leu422Val]
ENST00000393562.10:c.[202G>A;376A>G;1264C>G] MANE Select	ENSP00000377192.3:p.[Val68Met;Asn126Asp;Leu422Val]
ENST00000369620.6:c.[202G>A;376A>G;1402C>G]	ENSP00000358633.2:p.[Val68Met;Asn126Asp;Leu468Val]
ENST00000393562.6:c.[292G>A;466A>G;1354C>G]	ENSP00000377192.2:p.[Val98Met;Asn156Asp;Leu452Val]
ENST00000393564.6:c.[202G>A;376A>G;1264C>G]	ENSP00000377194.2:p.[Val68Met;Asn126Asp;Leu422Val]
ENST00000621232.4:c.[202G>A;376A>G;1264C>G]	ENSP00000483686.1:p.[Val68Met;Asn126Asp;Leu422Val]
NM_000402.4:c.[292G>A;466A>G;1354C>G]	NP_000393.4:p.[Val98Met;Asn156Asp;Leu452Val]
NM_001042351.2:c.[202G>A;376A>G;1264C>G]	NP_001035810.1:p.[Val68Met;Asn126Asp;Leu422Val]
XM_005274657.2:c.[292G>A;466A>G;1357C>G]	XP_005274714.1:p.[Val98Met;Asn156Asp;Leu453Val]
XM_005274658.2:c.[202G>A;376A>G;1267C>G]	XP_005274715.1:p.[Val68Met;Asn126Asp;Leu423Val]
XM_011531132.1:c.[292G>A;466A>G;*177C>G]	XP_011529434.1:[p.Val98Met;p.Asn156Asp;n.*177C>G]
NM_001360016.2:c.[202G>A;376A>G;1264C>G] MANE Select	NP_001346945.1:p.[Val68Met;Asn126Asp;Leu422Val]
NM_001042351.3:c.[202G>A;376A>G;1264C>G]	NP_001035810.1:p.[Val68Met;Asn126Asp;Leu422Val]