Canonical Allele Identifier: CA415232598

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532257C>A , CM000685.2:g.154532257C>A	GRCh38
NC_000023.10:g.153760472C>A , CM000685.1:g.153760472C>A	GRCh37
NC_000023.9:g.153413666C>A	NCBI36
NG_009015.2:g.20316G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1388G>T	ENSP00000377194.2:p.Arg463Leu
ENST00000439227.6:c.1391G>T	ENSP00000395599.2:p.Arg464Leu
ENST00000696420.1:c.1388G>T	ENSP00000512615.1:p.Arg463Leu
ENST00000696421.1:c.1388G>T	ENSP00000512616.1:p.Arg463Leu
ENST00000696422.1:c.1251G>T
ENST00000696423.1:c.1254G>T
ENST00000696424.1:c.1240G>T	ENSP00000512619.1:n.1240G>T
ENST00000696425.1:c.*301G>T	ENSP00000512620.1:n.*301G>T
ENST00000696426.1:c.*848G>T	ENSP00000512621.1:n.*848G>T
ENST00000696427.1:c.*348G>T	ENSP00000512622.1:n.*348G>T
ENST00000696428.1:c.*1230G>T	ENSP00000512623.1:n.*1230G>T
ENST00000696429.1:c.1388G>T	ENSP00000512624.1:p.Arg463Leu
ENST00000696430.1:c.1388G>T	ENSP00000512625.1:p.Arg463Leu
ENST00000393562.10:c.1388G>T MANE Select	ENSP00000377192.3:p.Arg463Leu
ENST00000369620.6:c.1526G>T	ENSP00000358633.2:p.Arg509Leu
ENST00000393562.6:c.1478G>T	ENSP00000377192.2:p.Arg493Leu
ENST00000393564.6:c.1388G>T	ENSP00000377194.2:p.Arg463Leu
ENST00000490651.1:n.609G>T
ENST00000621232.4:c.1388G>T	ENSP00000483686.1:p.Arg463Leu
NM_000402.4:c.1478G>T	NP_000393.4:p.Arg493Leu
NM_001042351.2:c.1388G>T	NP_001035810.1:p.Arg463Leu
XM_005274657.2:c.1481G>T	XP_005274714.1:p.Arg494Leu
XM_005274658.2:c.1391G>T	XP_005274715.1:p.Arg464Leu
NM_001360016.2:c.1388G>T MANE Select	NP_001346945.1:p.Arg463Leu
NM_001042351.3:c.1388G>T	NP_001035810.1:p.Arg463Leu