Canonical Allele Identifier: CA2573159449

Gene: G6PD

Linked Data

• ClinVar Variation Id: 1608909
• ClinVar RCV Id: RCV002149907
• dbSNP Id: rs2148328659
• gnomAD v4: X-154532474-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532474A>T , CM000685.2:g.154532474A>T	GRCh38
NC_000023.10:g.153760689A>T , CM000685.1:g.153760689A>T	GRCh37
NC_000023.9:g.153413883A>T	NCBI36
NG_009015.2:g.20099T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.1288-12T>A	ENSP00000377194.2:n.1288-12T>A
ENST00000439227.6:c.1291-12T>A	ENSP00000395599.2:n.1291-12T>A
ENST00000696420.1:c.1288-12T>A	ENSP00000512615.1:n.1288-12T>A
ENST00000696421.1:c.1288-12T>A	ENSP00000512616.1:n.1288-12T>A
ENST00000696422.1:c.1151-12T>A
ENST00000696423.1:c.1154-12T>A
ENST00000696424.1:c.1140-12T>A	ENSP00000512619.1:n.1140-12T>A
ENST00000696425.1:c.*201-12T>A	ENSP00000512620.1:n.*201-12T>A
ENST00000696426.1:c.*748-12T>A	ENSP00000512621.1:n.*748-12T>A
ENST00000696427.1:c.*248-12T>A	ENSP00000512622.1:n.*248-12T>A
ENST00000696428.1:c.*1130-12T>A	ENSP00000512623.1:n.*1130-12T>A
ENST00000696429.1:c.1288-12T>A	ENSP00000512624.1:n.1288-12T>A
ENST00000696430.1:c.1288-12T>A	ENSP00000512625.1:n.1288-12T>A
ENST00000393562.10:c.1288-12T>A MANE Select	ENSP00000377192.3:n.1288-12T>A
ENST00000369620.6:c.1426-12T>A	ENSP00000358633.2:n.1426-12T>A
ENST00000393562.6:c.1378-12T>A	ENSP00000377192.2:n.1378-12T>A
ENST00000393564.6:c.1288-12T>A	ENSP00000377194.2:n.1288-12T>A
ENST00000490651.1:n.509-12T>A
ENST00000621232.4:c.1288-12T>A	ENSP00000483686.1:n.1288-12T>A
NM_000402.4:c.1378-12T>A	NP_000393.4:n.1378-12T>A
NM_001042351.2:c.1288-12T>A	NP_001035810.1:n.1288-12T>A
XM_005274657.2:c.1381-12T>A	XP_005274714.1:n.1381-12T>A
XM_005274658.2:c.1291-12T>A	XP_005274715.1:n.1291-12T>A
NM_001360016.2:c.1288-12T>A MANE Select	NP_001346945.1:n.1288-12T>A
NM_001042351.3:c.1288-12T>A	NP_001035810.1:n.1288-12T>A