Canonical Allele Identifier: CA519302930
Gene: G6PD HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.153760441C>T (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.1419G>A ENSP00000377194.2:p.Glu473=
ENST00000439227.6:c.1422G>A ENSP00000395599.2:p.Glu474=
ENST00000696420.1:c.1419G>A ENSP00000512615.1:p.Glu473=
ENST00000696421.1:c.1419G>A ENSP00000512616.1:p.Glu473=
ENST00000696422.1:c.1282G>A
ENST00000696423.1:c.1285G>A
ENST00000696424.1:c.1271G>A ENSP00000512619.1:n.1271G>A
ENST00000696425.1:c.*332G>A ENSP00000512620.1:n.*332G>A
ENST00000696426.1:c.*879G>A ENSP00000512621.1:n.*879G>A
ENST00000696427.1:c.*379G>A ENSP00000512622.1:n.*379G>A
ENST00000696428.1:c.*1261G>A ENSP00000512623.1:n.*1261G>A
ENST00000696429.1:c.1419G>A ENSP00000512624.1:p.Glu473=
ENST00000696430.1:c.1419G>A ENSP00000512625.1:p.Glu473=
ENST00000393562.10:c.1419G>A MANE Select ENSP00000377192.3:p.Glu473=
ENST00000369620.6:c.1557G>A ENSP00000358633.2:p.Glu519=
ENST00000393562.6:c.1509G>A ENSP00000377192.2:p.Glu503=
ENST00000393564.6:c.1419G>A ENSP00000377194.2:p.Glu473=
ENST00000490651.1:n.640G>A
ENST00000621232.4:c.1419G>A ENSP00000483686.1:p.Glu473=
NM_000402.4:c.1509G>A NP_000393.4:p.Glu503=
NM_001042351.2:c.1419G>A NP_001035810.1:p.Glu473=
XM_005274657.2:c.1512G>A XP_005274714.1:p.Glu504=
XM_005274658.2:c.1422G>A XP_005274715.1:p.Glu474=
NM_001360016.2:c.1419G>A MANE Select NP_001346945.1:p.Glu473=
NM_001042351.3:c.1419G>A NP_001035810.1:p.Glu473=