Canonical Allele Identifier: CA2580573392

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.[154532945C>G;154535247G>A] , CM000685.2:g.[154532945C>G;154535247G>A]	GRCh38
NC_000023.10:g.[153761160C>G;153763462G>A] , CM000685.1:g.[153761160C>G;153763462G>A]	GRCh37
NC_000023.9:g.[153414354C>G;153416656G>A]	NCBI36
NG_009015.2:g.[17326C>T;19628G>C]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.[406C>T;1048G>C]	ENSP00000377194.2:p.[Arg136Cys;Asp350His]
ENST00000439227.6:c.[406C>T;1051G>C]	ENSP00000395599.2:p.[Arg136Cys;Asp351His]
ENST00000696420.1:c.[406C>T;1048G>C]	ENSP00000512615.1:p.[Arg136Cys;Asp350His]
ENST00000696421.1:c.[406C>T;1048G>C]	ENSP00000512616.1:p.[Arg136Cys;Asp350His]
ENST00000696422.1:c.[269C>T;911G>C]
ENST00000696423.1:c.[269C>T;914G>C]
ENST00000696424.1:c.[286C>T;900G>C]	ENSP00000512619.1:[p.Arg96Cys;n.900G>C]
ENST00000696425.1:c.[406C>T;865-143G>C]	ENSP00000512620.1:p.Arg136Cys
ENST00000696426.1:c.[406C>T;*508G>C]	ENSP00000512621.1:[p.Arg136Cys;n.*508G>C]
ENST00000696427.1:c.[406C>T;*8G>C]	ENSP00000512622.1:[p.Arg136Cys;n.*8G>C]
ENST00000696428.1:c.[*248C>T;*890G>C]	ENSP00000512623.1:n.[*248C>T;*890G>C]
ENST00000696429.1:c.[406C>T;1048G>C]	ENSP00000512624.1:p.[Arg136Cys;Asp350His]
ENST00000696430.1:c.[406C>T;1048G>C]	ENSP00000512625.1:p.[Arg136Cys;Asp350His]
ENST00000393562.10:c.[406C>T;1048G>C] MANE Select	ENSP00000377192.3:p.[Arg136Cys;Asp350His]
ENST00000369620.6:c.[406C>T;1186G>C]	ENSP00000358633.2:p.[Arg136Cys;Asp396His]
ENST00000393562.6:c.[496C>T;1138G>C]	ENSP00000377192.2:p.[Arg166Cys;Asp380His]
ENST00000393564.6:c.[406C>T;1048G>C]	ENSP00000377194.2:p.[Arg136Cys;Asp350His]
ENST00000621232.4:c.[406C>T;1048G>C]	ENSP00000483686.1:p.[Arg136Cys;Asp350His]
NM_000402.4:c.[496C>T;1138G>C]	NP_000393.4:p.[Arg166Cys;Asp380His]
NM_001042351.2:c.[406C>T;1048G>C]	NP_001035810.1:p.[Arg136Cys;Asp350His]
XM_005274657.2:c.[496C>T;1141G>C]	XP_005274714.1:p.[Arg166Cys;Asp381His]
XM_005274658.2:c.[406C>T;1051G>C]	XP_005274715.1:p.[Arg136Cys;Asp351His]
XM_011531132.1:c.[496C>T;958-143G>C]	XP_011529434.1:p.Arg166Cys
NM_001360016.2:c.[406C>T;1048G>C] MANE Select	NP_001346945.1:p.[Arg136Cys;Asp350His]
NM_001042351.3:c.[406C>T;1048G>C]	NP_001035810.1:p.[Arg136Cys;Asp350His]