Canonical Allele Identifier: CA415233817

Gene: G6PD

Linked Data

• MyVariant Identifiers: chrX:g.153760789C>G (hg19) ; chrX:g.154532574C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532574C>G , CM000685.2:g.154532574C>G	GRCh38
NC_000023.10:g.153760789C>G , CM000685.1:g.153760789C>G	GRCh37
NC_000023.9:g.153413983C>G	NCBI36
NG_009015.2:g.19999G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.1280G>C	ENSP00000377194.2:p.Arg427Thr
ENST00000439227.6:c.1283G>C	ENSP00000395599.2:p.Arg428Thr
ENST00000696420.1:c.1280G>C	ENSP00000512615.1:p.Arg427Thr
ENST00000696421.1:c.1280G>C	ENSP00000512616.1:p.Arg427Thr
ENST00000696422.1:c.1143G>C
ENST00000696423.1:c.1146G>C
ENST00000696424.1:c.1132G>C	ENSP00000512619.1:n.1132G>C
ENST00000696425.1:c.*193G>C	ENSP00000512620.1:n.*193G>C
ENST00000696426.1:c.*740G>C	ENSP00000512621.1:n.*740G>C
ENST00000696427.1:c.*240G>C	ENSP00000512622.1:n.*240G>C
ENST00000696428.1:c.*1122G>C	ENSP00000512623.1:n.*1122G>C
ENST00000696429.1:c.1280G>C	ENSP00000512624.1:p.Arg427Thr
ENST00000696430.1:c.1280G>C	ENSP00000512625.1:p.Arg427Thr
ENST00000393562.10:c.1280G>C MANE Select	ENSP00000377192.3:p.Arg427Thr
ENST00000369620.6:c.1418G>C	ENSP00000358633.2:p.Arg473Thr
ENST00000393562.6:c.1370G>C	ENSP00000377192.2:p.Arg457Thr
ENST00000393564.6:c.1280G>C	ENSP00000377194.2:p.Arg427Thr
ENST00000490651.1:n.501G>C
ENST00000621232.4:c.1280G>C	ENSP00000483686.1:p.Arg427Thr
NM_000402.4:c.1370G>C	NP_000393.4:p.Arg457Thr
NM_001042351.2:c.1280G>C	NP_001035810.1:p.Arg427Thr
XM_005274657.2:c.1373G>C	XP_005274714.1:p.Arg458Thr
XM_005274658.2:c.1283G>C	XP_005274715.1:p.Arg428Thr
NM_001360016.2:c.1280G>C MANE Select	NP_001346945.1:p.Arg427Thr
NM_001042351.3:c.1280G>C	NP_001035810.1:p.Arg427Thr