Canonical Allele Identifier: CA519302854

Gene: G6PD

Linked Data

• ClinVar Variation Id: 2963246
• ClinVar RCV Id: RCV003822900
• dbSNP Id: rs782206043
• gnomAD v4: X-154532078-C-G
• MyVariant Identifiers: chrX:g.153760293C>G (hg19) ; chrX:g.154532078C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532078C>G , CM000685.2:g.154532078C>G	GRCh38
NC_000023.10:g.153760293C>G , CM000685.1:g.153760293C>G	GRCh37
NC_000023.9:g.153413487C>G	NCBI36
NG_009015.2:g.20495G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1470G>C	ENSP00000377194.2:p.Thr490=
ENST00000439227.6:c.1473G>C	ENSP00000395599.2:p.Thr491=
ENST00000696420.1:c.1457+110G>C	ENSP00000512615.1:n.1457+110G>C
ENST00000696421.1:c.1457+110G>C	ENSP00000512616.1:n.1457+110G>C
ENST00000696422.1:c.1333G>C
ENST00000696423.1:c.1336G>C
ENST00000696424.1:c.1322G>C	ENSP00000512619.1:n.1322G>C
ENST00000696425.1:c.*383G>C	ENSP00000512620.1:n.*383G>C
ENST00000696426.1:c.*930G>C	ENSP00000512621.1:n.*930G>C
ENST00000696427.1:c.*430G>C	ENSP00000512622.1:n.*430G>C
ENST00000696428.1:c.*1312G>C	ENSP00000512623.1:n.*1312G>C
ENST00000696429.1:c.1470G>C	ENSP00000512624.1:p.Thr490=
ENST00000696430.1:c.1470G>C	ENSP00000512625.1:p.Thr490=
ENST00000393562.10:c.1470G>C MANE Select	ENSP00000377192.3:p.Thr490=
ENST00000369620.6:c.1608G>C	ENSP00000358633.2:p.Thr536=
ENST00000393562.6:c.1560G>C	ENSP00000377192.2:p.Thr520=
ENST00000393564.6:c.1470G>C	ENSP00000377194.2:p.Thr490=
ENST00000621232.4:c.1470G>C	ENSP00000483686.1:p.Thr490=
NM_000402.4:c.1560G>C	NP_000393.4:p.Thr520=
NM_001042351.2:c.1470G>C	NP_001035810.1:p.Thr490=
XM_005274657.2:c.1563G>C	XP_005274714.1:p.Thr521=
XM_005274658.2:c.1473G>C	XP_005274715.1:p.Thr491=
NM_001360016.2:c.1470G>C MANE Select	NP_001346945.1:p.Thr490=
NM_001042351.3:c.1470G>C	NP_001035810.1:p.Thr490=