Canonical Allele Identifier: CA415232453

Gene: G6PD

Linked Data

• MyVariant Identifiers: chrX:g.153760441C>A (hg19) ; chrX:g.154532226C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532226C>A , CM000685.2:g.154532226C>A	GRCh38
NC_000023.10:g.153760441C>A , CM000685.1:g.153760441C>A	GRCh37
NC_000023.9:g.153413635C>A	NCBI36
NG_009015.2:g.20347G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1419G>T	ENSP00000377194.2:p.Glu473Asp
ENST00000439227.6:c.1422G>T	ENSP00000395599.2:p.Glu474Asp
ENST00000696420.1:c.1419G>T	ENSP00000512615.1:p.Glu473Asp
ENST00000696421.1:c.1419G>T	ENSP00000512616.1:p.Glu473Asp
ENST00000696422.1:c.1282G>T
ENST00000696423.1:c.1285G>T
ENST00000696424.1:c.1271G>T	ENSP00000512619.1:n.1271G>T
ENST00000696425.1:c.*332G>T	ENSP00000512620.1:n.*332G>T
ENST00000696426.1:c.*879G>T	ENSP00000512621.1:n.*879G>T
ENST00000696427.1:c.*379G>T	ENSP00000512622.1:n.*379G>T
ENST00000696428.1:c.*1261G>T	ENSP00000512623.1:n.*1261G>T
ENST00000696429.1:c.1419G>T	ENSP00000512624.1:p.Glu473Asp
ENST00000696430.1:c.1419G>T	ENSP00000512625.1:p.Glu473Asp
ENST00000393562.10:c.1419G>T MANE Select	ENSP00000377192.3:p.Glu473Asp
ENST00000369620.6:c.1557G>T	ENSP00000358633.2:p.Glu519Asp
ENST00000393562.6:c.1509G>T	ENSP00000377192.2:p.Glu503Asp
ENST00000393564.6:c.1419G>T	ENSP00000377194.2:p.Glu473Asp
ENST00000490651.1:n.640G>T
ENST00000621232.4:c.1419G>T	ENSP00000483686.1:p.Glu473Asp
NM_000402.4:c.1509G>T	NP_000393.4:p.Glu503Asp
NM_001042351.2:c.1419G>T	NP_001035810.1:p.Glu473Asp
XM_005274657.2:c.1512G>T	XP_005274714.1:p.Glu504Asp
XM_005274658.2:c.1422G>T	XP_005274715.1:p.Glu474Asp
NM_001360016.2:c.1419G>T MANE Select	NP_001346945.1:p.Glu473Asp
NM_001042351.3:c.1419G>T	NP_001035810.1:p.Glu473Asp