Canonical Allele Identifier: CA415233872

Gene: G6PD

Linked Data

• MyVariant Identifiers: chrX:g.153760814C>G (hg19) ; chrX:g.154532599C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532599C>G , CM000685.2:g.154532599C>G	GRCh38
NC_000023.10:g.153760814C>G , CM000685.1:g.153760814C>G	GRCh37
NC_000023.9:g.153414008C>G	NCBI36
NG_009015.2:g.19974G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.1255G>C	ENSP00000377194.2:p.Glu419Gln
ENST00000439227.6:c.1258G>C	ENSP00000395599.2:p.Glu420Gln
ENST00000696420.1:c.1255G>C	ENSP00000512615.1:p.Glu419Gln
ENST00000696421.1:c.1255G>C	ENSP00000512616.1:p.Glu419Gln
ENST00000696422.1:c.1118G>C
ENST00000696423.1:c.1121G>C
ENST00000696424.1:c.1107G>C	ENSP00000512619.1:n.1107G>C
ENST00000696425.1:c.*168G>C	ENSP00000512620.1:n.*168G>C
ENST00000696426.1:c.*715G>C	ENSP00000512621.1:n.*715G>C
ENST00000696427.1:c.*215G>C	ENSP00000512622.1:n.*215G>C
ENST00000696428.1:c.*1097G>C	ENSP00000512623.1:n.*1097G>C
ENST00000696429.1:c.1255G>C	ENSP00000512624.1:p.Glu419Gln
ENST00000696430.1:c.1255G>C	ENSP00000512625.1:p.Glu419Gln
ENST00000393562.10:c.1255G>C MANE Select	ENSP00000377192.3:p.Glu419Gln
ENST00000369620.6:c.1393G>C	ENSP00000358633.2:p.Glu465Gln
ENST00000393562.6:c.1345G>C	ENSP00000377192.2:p.Glu449Gln
ENST00000393564.6:c.1255G>C	ENSP00000377194.2:p.Glu419Gln
ENST00000490651.1:n.476G>C
ENST00000621232.4:c.1255G>C	ENSP00000483686.1:p.Glu419Gln
NM_000402.4:c.1345G>C	NP_000393.4:p.Glu449Gln
NM_001042351.2:c.1255G>C	NP_001035810.1:p.Glu419Gln
XM_005274657.2:c.1348G>C	XP_005274714.1:p.Glu450Gln
XM_005274658.2:c.1258G>C	XP_005274715.1:p.Glu420Gln
XM_011531132.1:c.*168G>C	XP_011529434.1:n.*168G>C
NM_001360016.2:c.1255G>C MANE Select	NP_001346945.1:p.Glu419Gln
NM_001042351.3:c.1255G>C	NP_001035810.1:p.Glu419Gln