Canonical Allele Identifier: CA415233736

Gene: G6PD

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532439A>T , CM000685.2:g.154532439A>T	GRCh38
NG_009015.2:g.20134T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1311T>A	ENSP00000377194.2:p.Tyr437Ter
ENST00000439227.6:c.1314T>A	ENSP00000395599.2:p.Tyr438Ter
ENST00000696420.1:c.1311T>A	ENSP00000512615.1:p.Tyr437Ter
ENST00000696421.1:c.1311T>A	ENSP00000512616.1:p.Tyr437Ter
ENST00000696422.1:c.1174T>A
ENST00000696423.1:c.1177T>A
ENST00000696424.1:c.1163T>A	ENSP00000512619.1:n.1163T>A
ENST00000696425.1:c.*224T>A	ENSP00000512620.1:n.*224T>A
ENST00000696426.1:c.*771T>A	ENSP00000512621.1:n.*771T>A
ENST00000696427.1:c.*271T>A	ENSP00000512622.1:n.*271T>A
ENST00000696428.1:c.*1153T>A	ENSP00000512623.1:n.*1153T>A
ENST00000696429.1:c.1311T>A	ENSP00000512624.1:p.Tyr437Ter
ENST00000696430.1:c.1311T>A	ENSP00000512625.1:p.Tyr437Ter
ENST00000393562.10:c.1311T>A MANE Select	ENSP00000377192.3:p.Tyr437Ter
ENST00000369620.6:c.1449T>A	ENSP00000358633.2:p.Tyr483Ter
ENST00000393562.6:c.1401T>A	ENSP00000377192.2:p.Tyr467Ter
ENST00000393564.6:c.1311T>A	ENSP00000377194.2:p.Tyr437Ter
ENST00000490651.1:n.532T>A
ENST00000621232.4:c.1311T>A	ENSP00000483686.1:p.Tyr437Ter
NM_000402.4:c.1401T>A	NP_000393.4:p.Tyr467Ter
NM_001042351.2:c.1311T>A	NP_001035810.1:p.Tyr437Ter
XM_005274657.2:c.1404T>A	XP_005274714.1:p.Tyr468Ter
XM_005274658.2:c.1314T>A	XP_005274715.1:p.Tyr438Ter
NM_001360016.2:c.1311T>A MANE Select	NP_001346945.1:p.Tyr437Ter
NM_001042351.3:c.1311T>A	NP_001035810.1:p.Tyr437Ter