Canonical Allele Identifier: CA2580573385

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.[154532046A>C;154532269C>A] , CM000685.2:g.[154532046A>C;154532269C>A]	GRCh38
NC_000023.10:g.[153760261A>C;153760484C>A] , CM000685.1:g.[153760261A>C;153760484C>A]	GRCh37
NC_000023.9:g.[153413455A>C;153413678C>A]	NCBI36
NG_009015.2:g.[20304G>T;20527T>G]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.[1376G>T;1502T>G]	ENSP00000377194.2:p.[Arg459Leu;Phe501Cys]
ENST00000439227.6:c.[1379G>T;1505T>G]	ENSP00000395599.2:p.[Arg460Leu;Phe502Cys]
ENST00000696420.1:c.[1376G>T;1457+142T>G]	ENSP00000512615.1:p.Arg459Leu
ENST00000696421.1:c.[1376G>T;1457+142T>G]	ENSP00000512616.1:p.Arg459Leu
ENST00000696422.1:c.[1239G>T;1365T>G]
ENST00000696423.1:c.[1242G>T;1368T>G]
ENST00000696424.1:c.[1228G>T;1354T>G]	ENSP00000512619.1:n.[1228G>T;1354T>G]
ENST00000696425.1:c.[*289G>T;*415T>G]	ENSP00000512620.1:n.[*289G>T;*415T>G]
ENST00000696426.1:c.[*836G>T;*962T>G]	ENSP00000512621.1:n.[*836G>T;*962T>G]
ENST00000696427.1:c.[*336G>T;*462T>G]	ENSP00000512622.1:n.[*336G>T;*462T>G]
ENST00000696428.1:c.[*1218G>T;*1344T>G]	ENSP00000512623.1:n.[*1218G>T;*1344T>G]
ENST00000696429.1:c.[1376G>T;1502T>G]	ENSP00000512624.1:p.[Arg459Leu;Phe501Cys]
ENST00000696430.1:c.[1376G>T;1502T>G]	ENSP00000512625.1:p.[Arg459Leu;Phe501Cys]
ENST00000393562.10:c.[1376G>T;1502T>G] MANE Select	ENSP00000377192.3:p.[Arg459Leu;Phe501Cys]
ENST00000369620.6:c.[1514G>T;1640T>G]	ENSP00000358633.2:p.[Arg505Leu;Phe547Cys]
ENST00000393562.6:c.[1466G>T;1592T>G]	ENSP00000377192.2:p.[Arg489Leu;Phe531Cys]
ENST00000393564.6:c.[1376G>T;1502T>G]	ENSP00000377194.2:p.[Arg459Leu;Phe501Cys]
ENST00000621232.4:c.[1376G>T;1502T>G]	ENSP00000483686.1:p.[Arg459Leu;Phe501Cys]
NM_000402.4:c.[1466G>T;1592T>G]	NP_000393.4:p.[Arg489Leu;Phe531Cys]
NM_001042351.2:c.[1376G>T;1502T>G]	NP_001035810.1:p.[Arg459Leu;Phe501Cys]
XM_005274657.2:c.[1469G>T;1595T>G]	XP_005274714.1:p.[Arg490Leu;Phe532Cys]
XM_005274658.2:c.[1379G>T;1505T>G]	XP_005274715.1:p.[Arg460Leu;Phe502Cys]
NM_001360016.2:c.[1376G>T;1502T>G] MANE Select	NP_001346945.1:p.[Arg459Leu;Phe501Cys]
NM_001042351.3:c.[1376G>T;1502T>G]	NP_001035810.1:p.[Arg459Leu;Phe501Cys]