Canonical Allele Identifier: CA10566104

Gene: G6PD

Linked Data

• ClinVar Variation Id: 1014228
• ClinVar RCV Id: RCV001312937
• dbSNP Id: rs781906610
• ExAC: X:153761235 C / T
• gnomAD v2: X-153761235-C-T
• gnomAD v4: X-154533020-C-T
• MyVariant Identifiers: chrX:g.153761235C>T (hg19) ; chrX:g.154533020C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533020C>T , CM000685.2:g.154533020C>T	GRCh38
NC_000023.10:g.153761235C>T , CM000685.1:g.153761235C>T	GRCh37
NC_000023.9:g.153414429C>T	NCBI36
NG_009015.2:g.19553G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.973G>A	ENSP00000377194.2:p.Asp325Asn
ENST00000439227.6:c.976G>A	ENSP00000395599.2:p.Asp326Asn
ENST00000696420.1:c.973G>A	ENSP00000512615.1:p.Asp325Asn
ENST00000696421.1:c.973G>A	ENSP00000512616.1:p.Asp325Asn
ENST00000696422.1:c.836G>A
ENST00000696423.1:c.839G>A
ENST00000696424.1:c.825G>A	ENSP00000512619.1:n.825G>A
ENST00000696425.1:c.865-218G>A	ENSP00000512620.1:n.865-218G>A
ENST00000696426.1:c.*433G>A	ENSP00000512621.1:n.*433G>A
ENST00000696427.1:c.980G>A	ENSP00000512622.1:p.Arg327Gln
ENST00000696428.1:c.*815G>A	ENSP00000512623.1:n.*815G>A
ENST00000696429.1:c.973G>A	ENSP00000512624.1:p.Asp325Asn
ENST00000696430.1:c.973G>A	ENSP00000512625.1:p.Asp325Asn
ENST00000393562.10:c.973G>A MANE Select	ENSP00000377192.3:p.Asp325Asn
ENST00000369620.6:c.1111G>A	ENSP00000358633.2:p.Asp371Asn
ENST00000393562.6:c.1063G>A	ENSP00000377192.2:p.Asp355Asn
ENST00000393564.6:c.973G>A	ENSP00000377194.2:p.Asp325Asn
ENST00000439227.5:c.976G>A	ENSP00000395599.1:p.Asp326Asn
ENST00000490651.1:n.55G>A
ENST00000621232.4:c.973G>A	ENSP00000483686.1:p.Asp325Asn
NM_000402.4:c.1063G>A	NP_000393.4:p.Asp355Asn
NM_001042351.2:c.973G>A	NP_001035810.1:p.Asp325Asn
XM_005274657.2:c.1066G>A	XP_005274714.1:p.Asp356Asn
XM_005274658.2:c.976G>A	XP_005274715.1:p.Asp326Asn
XM_011531132.1:c.958-218G>A	XP_011529434.1:n.958-218G>A
NM_001360016.2:c.973G>A MANE Select	NP_001346945.1:p.Asp325Asn
NM_001042351.3:c.973G>A	NP_001035810.1:p.Asp325Asn