Canonical Allele Identifier: CA337316423

Gene: G6PD

Linked Data

• dbSNP Id: rs387906467
• gnomAD v4: X-154532784-C-T
• MyVariant Identifiers: chrX:g.153760999C>T (hg19) ; chrX:g.154532784C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532784C>T , CM000685.2:g.154532784C>T	GRCh38
NC_000023.10:g.153760999C>T , CM000685.1:g.153760999C>T	GRCh37
NC_000023.9:g.153414193C>T	NCBI36
NG_009015.2:g.19789G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1070G>A	ENSP00000377194.2:p.Arg357His
ENST00000439227.6:c.1073G>A	ENSP00000395599.2:p.Arg358His
ENST00000696420.1:c.1070G>A	ENSP00000512615.1:p.Arg357His
ENST00000696421.1:c.1070G>A	ENSP00000512616.1:p.Arg357His
ENST00000696422.1:c.933G>A
ENST00000696423.1:c.936G>A
ENST00000696424.1:c.922G>A	ENSP00000512619.1:n.922G>A
ENST00000696425.1:c.883G>A	ENSP00000512620.1:p.Ala295Thr
ENST00000696426.1:c.*530G>A	ENSP00000512621.1:n.*530G>A
ENST00000696427.1:c.*30G>A	ENSP00000512622.1:n.*30G>A
ENST00000696428.1:c.*912G>A	ENSP00000512623.1:n.*912G>A
ENST00000696429.1:c.1070G>A	ENSP00000512624.1:p.Arg357His
ENST00000696430.1:c.1070G>A	ENSP00000512625.1:p.Arg357His
ENST00000393562.10:c.1070G>A MANE Select	ENSP00000377192.3:p.Arg357His
ENST00000369620.6:c.1208G>A	ENSP00000358633.2:p.Arg403His
ENST00000393562.6:c.1160G>A	ENSP00000377192.2:p.Arg387His
ENST00000393564.6:c.1070G>A	ENSP00000377194.2:p.Arg357His
ENST00000490651.1:n.291G>A
ENST00000621232.4:c.1070G>A	ENSP00000483686.1:p.Arg357His
NM_000402.4:c.1160G>A	NP_000393.4:p.Arg387His
NM_001042351.2:c.1070G>A	NP_001035810.1:p.Arg357His
XM_005274657.2:c.1163G>A	XP_005274714.1:p.Arg388His
XM_005274658.2:c.1073G>A	XP_005274715.1:p.Arg358His
XM_011531132.1:c.976G>A	XP_011529434.1:p.Ala326Thr
NM_001360016.2:c.1070G>A MANE Select	NP_001346945.1:p.Arg357His
NM_001042351.3:c.1070G>A	NP_001035810.1:p.Arg357His