Canonical Allele Identifier: CA10566042

Gene: G6PD

Linked Data

• ClinVar Variation Id: 1722623
• ClinVar RCV Id: RCV002305733
• dbSNP Id: rs782098548
• ExAC: X:153760674 C / T
• gnomAD v2: X-153760674-C-T
• gnomAD v4: X-154532459-C-T
• MyVariant Identifiers: chrX:g.153760674C>T (hg19) ; chrX:g.154532459C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532459C>T , CM000685.2:g.154532459C>T	GRCh38
NC_000023.10:g.153760674C>T , CM000685.1:g.153760674C>T	GRCh37
NC_000023.9:g.153413868C>T	NCBI36
NG_009015.2:g.20114G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1291G>A	ENSP00000377194.2:p.Val431Met
ENST00000439227.6:c.1294G>A	ENSP00000395599.2:p.Val432Met
ENST00000696420.1:c.1291G>A	ENSP00000512615.1:p.Val431Met
ENST00000696421.1:c.1291G>A	ENSP00000512616.1:p.Val431Met
ENST00000696422.1:c.1154G>A
ENST00000696423.1:c.1157G>A
ENST00000696424.1:c.1143G>A	ENSP00000512619.1:n.1143G>A
ENST00000696425.1:c.*204G>A	ENSP00000512620.1:n.*204G>A
ENST00000696426.1:c.*751G>A	ENSP00000512621.1:n.*751G>A
ENST00000696427.1:c.*251G>A	ENSP00000512622.1:n.*251G>A
ENST00000696428.1:c.*1133G>A	ENSP00000512623.1:n.*1133G>A
ENST00000696429.1:c.1291G>A	ENSP00000512624.1:p.Val431Met
ENST00000696430.1:c.1291G>A	ENSP00000512625.1:p.Val431Met
ENST00000393562.10:c.1291G>A MANE Select	ENSP00000377192.3:p.Val431Met
ENST00000369620.6:c.1429G>A	ENSP00000358633.2:p.Val477Met
ENST00000393562.6:c.1381G>A	ENSP00000377192.2:p.Val461Met
ENST00000393564.6:c.1291G>A	ENSP00000377194.2:p.Val431Met
ENST00000490651.1:n.512G>A
ENST00000621232.4:c.1291G>A	ENSP00000483686.1:p.Val431Met
NM_000402.4:c.1381G>A	NP_000393.4:p.Val461Met
NM_001042351.2:c.1291G>A	NP_001035810.1:p.Val431Met
XM_005274657.2:c.1384G>A	XP_005274714.1:p.Val462Met
XM_005274658.2:c.1294G>A	XP_005274715.1:p.Val432Met
NM_001360016.2:c.1291G>A MANE Select	NP_001346945.1:p.Val431Met
NM_001042351.3:c.1291G>A	NP_001035810.1:p.Val431Met