Canonical Allele Identifier: CA2466723413

Gene: G6PD

Linked Data

• ClinVar Variation Id: 1722648
• ClinVar RCV Id: RCV002305758
• dbSNP Id: rs2070352108

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532571dup , CM000685.2:g.154532571dup	GRCh38
NC_000023.10:g.153760786dup , CM000685.1:g.153760786dup	GRCh37
NC_000023.9:g.153413980dup	NCBI36
NG_009015.2:g.20002dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.1283dup	ENSP00000377194.2:p.Tyr428Ter
ENST00000439227.6:c.1286dup	ENSP00000395599.2:p.Tyr429Ter
ENST00000696420.1:c.1283dup	ENSP00000512615.1:p.Tyr428Ter
ENST00000696421.1:c.1283dup	ENSP00000512616.1:p.Tyr428Ter
ENST00000696422.1:c.1146dup
ENST00000696423.1:c.1149dup
ENST00000696424.1:c.1135dup	ENSP00000512619.1:n.1135dup
ENST00000696425.1:c.*196dup	ENSP00000512620.1:n.*196dup
ENST00000696426.1:c.*743dup	ENSP00000512621.1:n.*743dup
ENST00000696427.1:c.*243dup	ENSP00000512622.1:n.*243dup
ENST00000696428.1:c.*1125dup	ENSP00000512623.1:n.*1125dup
ENST00000696429.1:c.1283dup	ENSP00000512624.1:p.Tyr428Ter
ENST00000696430.1:c.1283dup	ENSP00000512625.1:p.Tyr428Ter
ENST00000393562.10:c.1283dup MANE Select	ENSP00000377192.3:p.Tyr428Ter
ENST00000369620.6:c.1421dup	ENSP00000358633.2:p.Tyr474Ter
ENST00000393562.6:c.1373dup	ENSP00000377192.2:p.Tyr458Ter
ENST00000393564.6:c.1283dup	ENSP00000377194.2:p.Tyr428Ter
ENST00000490651.1:n.504dup
ENST00000621232.4:c.1283dup	ENSP00000483686.1:p.Tyr428Ter
NM_000402.4:c.1373dup	NP_000393.4:p.Tyr458Ter
NM_001042351.2:c.1283dup	NP_001035810.1:p.Tyr428Ter
XM_005274657.2:c.1376dup	XP_005274714.1:p.Tyr459Ter
XM_005274658.2:c.1286dup	XP_005274715.1:p.Tyr429Ter
NM_001360016.2:c.1283dup MANE Select	NP_001346945.1:p.Tyr428Ter
NM_001042351.3:c.1283dup	NP_001035810.1:p.Tyr428Ter