Canonical Allele Identifier: CA415234928

Gene: G6PD

Linked Data

• MyVariant Identifiers: chrX:g.153761331T>C (hg19) ; chrX:g.154533116T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533116T>C , CM000685.2:g.154533116T>C	GRCh38
NC_000023.10:g.153761331T>C , CM000685.1:g.153761331T>C	GRCh37
NC_000023.9:g.153414525T>C	NCBI36
NG_009015.2:g.19457A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.877A>G	ENSP00000377194.2:p.Lys293Glu
ENST00000439227.6:c.880A>G	ENSP00000395599.2:p.Lys294Glu
ENST00000696420.1:c.877A>G	ENSP00000512615.1:p.Lys293Glu
ENST00000696421.1:c.877A>G	ENSP00000512616.1:p.Lys293Glu
ENST00000696422.1:c.740A>G
ENST00000696423.1:c.743A>G
ENST00000696424.1:c.729A>G	ENSP00000512619.1:p.Ter243Trp
ENST00000696425.1:c.865-314A>G	ENSP00000512620.1:n.865-314A>G
ENST00000696426.1:c.*337A>G	ENSP00000512621.1:n.*337A>G
ENST00000696427.1:c.884A>G	ENSP00000512622.1:p.Glu295Gly
ENST00000696428.1:c.*719A>G	ENSP00000512623.1:n.*719A>G
ENST00000696429.1:c.877A>G	ENSP00000512624.1:p.Lys293Glu
ENST00000696430.1:c.877A>G	ENSP00000512625.1:p.Lys293Glu
ENST00000393562.10:c.877A>G MANE Select	ENSP00000377192.3:p.Lys293Glu
ENST00000369620.6:c.1015A>G	ENSP00000358633.2:p.Lys339Glu
ENST00000393562.6:c.967A>G	ENSP00000377192.2:p.Lys323Glu
ENST00000393564.6:c.877A>G	ENSP00000377194.2:p.Lys293Glu
ENST00000439227.5:c.880A>G	ENSP00000395599.1:p.Lys294Glu
ENST00000440967.5:c.880A>G	ENSP00000400648.1:p.Lys294Glu
ENST00000621232.4:c.877A>G	ENSP00000483686.1:p.Lys293Glu
NM_000402.4:c.967A>G	NP_000393.4:p.Lys323Glu
NM_001042351.2:c.877A>G	NP_001035810.1:p.Lys293Glu
XM_005274657.2:c.970A>G	XP_005274714.1:p.Lys324Glu
XM_005274658.2:c.880A>G	XP_005274715.1:p.Lys294Glu
XM_011531132.1:c.958-314A>G	XP_011529434.1:n.958-314A>G
NM_001360016.2:c.877A>G MANE Select	NP_001346945.1:p.Lys293Glu
NM_001042351.3:c.877A>G	NP_001035810.1:p.Lys293Glu