Canonical Allele Identifier: CA519714573

Gene: G6PD

Linked Data

• MyVariant Identifiers: chrX:g.153760989C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532774C>T , CM000685.2:g.154532774C>T	GRCh38
NC_000023.10:g.153760989C>T , CM000685.1:g.153760989C>T	GRCh37
NC_000023.9:g.153414183C>T	NCBI36
NG_009015.2:g.19799G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1080G>A	ENSP00000377194.2:p.Lys360=
ENST00000439227.6:c.1083G>A	ENSP00000395599.2:p.Lys361=
ENST00000696420.1:c.1080G>A	ENSP00000512615.1:p.Lys360=
ENST00000696421.1:c.1080G>A	ENSP00000512616.1:p.Lys360=
ENST00000696422.1:c.943G>A
ENST00000696423.1:c.946G>A
ENST00000696424.1:c.932G>A	ENSP00000512619.1:n.932G>A
ENST00000696425.1:c.893G>A	ENSP00000512620.1:p.Arg298Lys
ENST00000696426.1:c.*540G>A	ENSP00000512621.1:n.*540G>A
ENST00000696427.1:c.*40G>A	ENSP00000512622.1:n.*40G>A
ENST00000696428.1:c.*922G>A	ENSP00000512623.1:n.*922G>A
ENST00000696429.1:c.1080G>A	ENSP00000512624.1:p.Lys360=
ENST00000696430.1:c.1080G>A	ENSP00000512625.1:p.Lys360=
ENST00000393562.10:c.1080G>A MANE Select	ENSP00000377192.3:p.Lys360=
ENST00000369620.6:c.1218G>A	ENSP00000358633.2:p.Lys406=
ENST00000393562.6:c.1170G>A	ENSP00000377192.2:p.Lys390=
ENST00000393564.6:c.1080G>A	ENSP00000377194.2:p.Lys360=
ENST00000490651.1:n.301G>A
ENST00000621232.4:c.1080G>A	ENSP00000483686.1:p.Lys360=
NM_000402.4:c.1170G>A	NP_000393.4:p.Lys390=
NM_001042351.2:c.1080G>A	NP_001035810.1:p.Lys360=
XM_005274657.2:c.1173G>A	XP_005274714.1:p.Lys391=
XM_005274658.2:c.1083G>A	XP_005274715.1:p.Lys361=
XM_011531132.1:c.986G>A	XP_011529434.1:p.Arg329Lys
NM_001360016.2:c.1080G>A MANE Select	NP_001346945.1:p.Lys360=
NM_001042351.3:c.1080G>A	NP_001035810.1:p.Lys360=