Canonical Allele Identifier: CA519303728

Gene: G6PD

Linked Data

• ClinVar Variation Id: 2059128
• ClinVar RCV Id: RCV002933572
• gnomAD v4: X-154533099-C-A
• MyVariant Identifiers: chrX:g.153761314C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533099C>A , CM000685.2:g.154533099C>A	GRCh38
NC_000023.10:g.153761314C>A , CM000685.1:g.153761314C>A	GRCh37
NC_000023.9:g.153414508C>A	NCBI36
NG_009015.2:g.19474G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.894G>T	ENSP00000377194.2:p.Val298=
ENST00000439227.6:c.897G>T	ENSP00000395599.2:p.Val299=
ENST00000696420.1:c.894G>T	ENSP00000512615.1:p.Val298=
ENST00000696421.1:c.894G>T	ENSP00000512616.1:p.Val298=
ENST00000696422.1:c.757G>T
ENST00000696423.1:c.760G>T
ENST00000696424.1:c.746G>T	ENSP00000512619.1:n.746G>T
ENST00000696425.1:c.865-297G>T	ENSP00000512620.1:n.865-297G>T
ENST00000696426.1:c.*354G>T	ENSP00000512621.1:n.*354G>T
ENST00000696427.1:c.901G>T	ENSP00000512622.1:p.Ala301Ser
ENST00000696428.1:c.*736G>T	ENSP00000512623.1:n.*736G>T
ENST00000696429.1:c.894G>T	ENSP00000512624.1:p.Val298=
ENST00000696430.1:c.894G>T	ENSP00000512625.1:p.Val298=
ENST00000393562.10:c.894G>T MANE Select	ENSP00000377192.3:p.Val298=
ENST00000369620.6:c.1032G>T	ENSP00000358633.2:p.Val344=
ENST00000393562.6:c.984G>T	ENSP00000377192.2:p.Val328=
ENST00000393564.6:c.894G>T	ENSP00000377194.2:p.Val298=
ENST00000439227.5:c.897G>T	ENSP00000395599.1:p.Val299=
ENST00000440967.5:c.897G>T	ENSP00000400648.1:p.Val299=
ENST00000621232.4:c.894G>T	ENSP00000483686.1:p.Val298=
NM_000402.4:c.984G>T	NP_000393.4:p.Val328=
NM_001042351.2:c.894G>T	NP_001035810.1:p.Val298=
XM_005274657.2:c.987G>T	XP_005274714.1:p.Val329=
XM_005274658.2:c.897G>T	XP_005274715.1:p.Val299=
XM_011531132.1:c.958-297G>T	XP_011529434.1:n.958-297G>T
NM_001360016.2:c.894G>T MANE Select	NP_001346945.1:p.Val298=
NM_001042351.3:c.894G>T	NP_001035810.1:p.Val298=