Canonical Allele Identifier: CA120979

Gene: G6PD

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532269C>A , CM000685.2:g.154532269C>A	GRCh38
NC_000023.10:g.153760484C>A , CM000685.1:g.153760484C>A	GRCh37
NC_000023.9:g.153413678C>A	NCBI36
NG_009015.2:g.20304G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1376G>T	ENSP00000377194.2:p.Arg459Leu
ENST00000439227.6:c.1379G>T	ENSP00000395599.2:p.Arg460Leu
ENST00000696420.1:c.1376G>T	ENSP00000512615.1:p.Arg459Leu
ENST00000696421.1:c.1376G>T	ENSP00000512616.1:p.Arg459Leu
ENST00000696422.1:c.1239G>T
ENST00000696423.1:c.1242G>T
ENST00000696424.1:c.1228G>T	ENSP00000512619.1:n.1228G>T
ENST00000696425.1:c.*289G>T	ENSP00000512620.1:n.*289G>T
ENST00000696426.1:c.*836G>T	ENSP00000512621.1:n.*836G>T
ENST00000696427.1:c.*336G>T	ENSP00000512622.1:n.*336G>T
ENST00000696428.1:c.*1218G>T	ENSP00000512623.1:n.*1218G>T
ENST00000696429.1:c.1376G>T	ENSP00000512624.1:p.Arg459Leu
ENST00000696430.1:c.1376G>T	ENSP00000512625.1:p.Arg459Leu
ENST00000393562.10:c.1376G>T MANE Select	ENSP00000377192.3:p.Arg459Leu
ENST00000369620.6:c.1514G>T	ENSP00000358633.2:p.Arg505Leu
ENST00000393562.6:c.1466G>T	ENSP00000377192.2:p.Arg489Leu
ENST00000393564.6:c.1376G>T	ENSP00000377194.2:p.Arg459Leu
ENST00000490651.1:n.597G>T
ENST00000621232.4:c.1376G>T	ENSP00000483686.1:p.Arg459Leu
NM_000402.4:c.1466G>T	NP_000393.4:p.Arg489Leu
NM_001042351.2:c.1376G>T	NP_001035810.1:p.Arg459Leu
XM_005274657.2:c.1469G>T	XP_005274714.1:p.Arg490Leu
XM_005274658.2:c.1379G>T	XP_005274715.1:p.Arg460Leu
NM_001360016.2:c.1376G>T MANE Select	NP_001346945.1:p.Arg459Leu
NM_001042351.3:c.1376G>T	NP_001035810.1:p.Arg459Leu