Canonical Allele Identifier: CA415233739

Gene: G6PD

Linked Data

• COSMIC: COSM3559796 ; COSM3559797 ; COSM3559798
• MyVariant Identifiers: chrX:g.153760655T>A (hg19) ; chrX:g.154532440T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532440T>A , CM000685.2:g.154532440T>A	GRCh38
NC_000023.10:g.153760655T>A , CM000685.1:g.153760655T>A	GRCh37
NC_000023.9:g.153413849T>A	NCBI36
NG_009015.2:g.20133A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1310A>T	ENSP00000377194.2:p.Tyr437Phe
ENST00000439227.6:c.1313A>T	ENSP00000395599.2:p.Tyr438Phe
ENST00000696420.1:c.1310A>T	ENSP00000512615.1:p.Tyr437Phe
ENST00000696421.1:c.1310A>T	ENSP00000512616.1:p.Tyr437Phe
ENST00000696422.1:c.1173A>T
ENST00000696423.1:c.1176A>T
ENST00000696424.1:c.1162A>T	ENSP00000512619.1:n.1162A>T
ENST00000696425.1:c.*223A>T	ENSP00000512620.1:n.*223A>T
ENST00000696426.1:c.*770A>T	ENSP00000512621.1:n.*770A>T
ENST00000696427.1:c.*270A>T	ENSP00000512622.1:n.*270A>T
ENST00000696428.1:c.*1152A>T	ENSP00000512623.1:n.*1152A>T
ENST00000696429.1:c.1310A>T	ENSP00000512624.1:p.Tyr437Phe
ENST00000696430.1:c.1310A>T	ENSP00000512625.1:p.Tyr437Phe
ENST00000393562.10:c.1310A>T MANE Select	ENSP00000377192.3:p.Tyr437Phe
ENST00000369620.6:c.1448A>T	ENSP00000358633.2:p.Tyr483Phe
ENST00000393562.6:c.1400A>T	ENSP00000377192.2:p.Tyr467Phe
ENST00000393564.6:c.1310A>T	ENSP00000377194.2:p.Tyr437Phe
ENST00000490651.1:n.531A>T
ENST00000621232.4:c.1310A>T	ENSP00000483686.1:p.Tyr437Phe
NM_000402.4:c.1400A>T	NP_000393.4:p.Tyr467Phe
NM_001042351.2:c.1310A>T	NP_001035810.1:p.Tyr437Phe
XM_005274657.2:c.1403A>T	XP_005274714.1:p.Tyr468Phe
XM_005274658.2:c.1313A>T	XP_005274715.1:p.Tyr438Phe
NM_001360016.2:c.1310A>T MANE Select	NP_001346945.1:p.Tyr437Phe
NM_001042351.3:c.1310A>T	NP_001035810.1:p.Tyr437Phe