Canonical Allele Identifier: CA415234022

Gene: G6PD

Linked Data

• MyVariant Identifiers: chrX:g.153760877C>A (hg19) ; chrX:g.154532662C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532662C>A , CM000685.2:g.154532662C>A	GRCh38
NC_000023.10:g.153760877C>A , CM000685.1:g.153760877C>A	GRCh37
NC_000023.9:g.153414071C>A	NCBI36
NG_009015.2:g.19911G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.1192G>T	ENSP00000377194.2:p.Glu398Ter
ENST00000439227.6:c.1195G>T	ENSP00000395599.2:p.Glu399Ter
ENST00000696420.1:c.1192G>T	ENSP00000512615.1:p.Glu398Ter
ENST00000696421.1:c.1192G>T	ENSP00000512616.1:p.Glu398Ter
ENST00000696422.1:c.1055G>T
ENST00000696423.1:c.1058G>T
ENST00000696424.1:c.1044G>T	ENSP00000512619.1:n.1044G>T
ENST00000696425.1:c.*105G>T	ENSP00000512620.1:n.*105G>T
ENST00000696426.1:c.*652G>T	ENSP00000512621.1:n.*652G>T
ENST00000696427.1:c.*152G>T	ENSP00000512622.1:n.*152G>T
ENST00000696428.1:c.*1034G>T	ENSP00000512623.1:n.*1034G>T
ENST00000696429.1:c.1192G>T	ENSP00000512624.1:p.Glu398Ter
ENST00000696430.1:c.1192G>T	ENSP00000512625.1:p.Glu398Ter
ENST00000393562.10:c.1192G>T MANE Select	ENSP00000377192.3:p.Glu398Ter
ENST00000369620.6:c.1330G>T	ENSP00000358633.2:p.Glu444Ter
ENST00000393562.6:c.1282G>T	ENSP00000377192.2:p.Glu428Ter
ENST00000393564.6:c.1192G>T	ENSP00000377194.2:p.Glu398Ter
ENST00000490651.1:n.413G>T
ENST00000621232.4:c.1192G>T	ENSP00000483686.1:p.Glu398Ter
NM_000402.4:c.1282G>T	NP_000393.4:p.Glu428Ter
NM_001042351.2:c.1192G>T	NP_001035810.1:p.Glu398Ter
XM_005274657.2:c.1285G>T	XP_005274714.1:p.Glu429Ter
XM_005274658.2:c.1195G>T	XP_005274715.1:p.Glu399Ter
XM_011531132.1:c.*105G>T	XP_011529434.1:n.*105G>T
NM_001360016.2:c.1192G>T MANE Select	NP_001346945.1:p.Glu398Ter
NM_001042351.3:c.1192G>T	NP_001035810.1:p.Glu398Ter