Canonical Allele Identifier: CA2580573393

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.[154532956T>A;154534345C>A] , CM000685.2:g.[154532956T>A;154534345C>A]	GRCh38
NC_000023.10:g.[153761171T>A;153762560C>A] , CM000685.1:g.[153761171T>A;153762560C>A]	GRCh37
NC_000023.9:g.[153414365T>A;153415754C>A]	NCBI36
NG_009015.2:g.[18228G>T;19617A>T]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.[637G>T;1037A>T]	ENSP00000377194.2:p.[Val213Leu;Asn346Ile]
ENST00000439227.6:c.[640G>T;1040A>T]	ENSP00000395599.2:p.[Val214Leu;Asn347Ile]
ENST00000696420.1:c.[637G>T;1037A>T]	ENSP00000512615.1:p.[Val213Leu;Asn346Ile]
ENST00000696421.1:c.[637G>T;1037A>T]	ENSP00000512616.1:p.[Val213Leu;Asn346Ile]
ENST00000696422.1:c.[500G>T;900A>T]
ENST00000696423.1:c.[503G>T;903A>T]
ENST00000696424.1:c.[517G>T;889A>T]	ENSP00000512619.1:[p.Val173Leu;n.889A>T]
ENST00000696425.1:c.[637G>T;865-154A>T]	ENSP00000512620.1:p.Val213Leu
ENST00000696426.1:c.[637G>T;*497A>T]	ENSP00000512621.1:[p.Val213Leu;n.*497A>T]
ENST00000696427.1:c.[637G>T;1044A>T]	ENSP00000512622.1:p.[Val213Leu;Glu348Asp]
ENST00000696428.1:c.[*479G>T;*879A>T]	ENSP00000512623.1:n.[*479G>T;*879A>T]
ENST00000696429.1:c.[637G>T;1037A>T]	ENSP00000512624.1:p.[Val213Leu;Asn346Ile]
ENST00000696430.1:c.[637G>T;1037A>T]	ENSP00000512625.1:p.[Val213Leu;Asn346Ile]
ENST00000393562.10:c.[637G>T;1037A>T] MANE Select	ENSP00000377192.3:p.[Val213Leu;Asn346Ile]
ENST00000369620.6:c.[637G>T;1175A>T]	ENSP00000358633.2:p.[Val213Leu;Asn392Ile]
ENST00000393562.6:c.[727G>T;1127A>T]	ENSP00000377192.2:p.[Val243Leu;Asn376Ile]
ENST00000393564.6:c.[637G>T;1037A>T]	ENSP00000377194.2:p.[Val213Leu;Asn346Ile]
ENST00000621232.4:c.[637G>T;1037A>T]	ENSP00000483686.1:p.[Val213Leu;Asn346Ile]
NM_000402.4:c.[727G>T;1127A>T]	NP_000393.4:p.[Val243Leu;Asn376Ile]
NM_001042351.2:c.[637G>T;1037A>T]	NP_001035810.1:p.[Val213Leu;Asn346Ile]
XM_005274657.2:c.[730G>T;1130A>T]	XP_005274714.1:p.[Val244Leu;Asn377Ile]
XM_005274658.2:c.[640G>T;1040A>T]	XP_005274715.1:p.[Val214Leu;Asn347Ile]
XM_011531132.1:c.[730G>T;958-154A>T]	XP_011529434.1:p.Val244Leu
NM_001360016.2:c.[637G>T;1037A>T] MANE Select	NP_001346945.1:p.[Val213Leu;Asn346Ile]
NM_001042351.3:c.[637G>T;1037A>T]	NP_001035810.1:p.[Val213Leu;Asn346Ile]