Canonical Allele Identifier: CA519303313

Gene: G6PD

Linked Data

• ClinVar Variation Id: 1084252
• ClinVar RCV Id: RCV001401225
• dbSNP Id: rs1440647556
• gnomAD v2: X-153761191-G-A
• gnomAD v3: X-154532976-G-A
• gnomAD v4: X-154532976-G-A
• MyVariant Identifiers: chrX:g.153761191G>A (hg19) ; chrX:g.154532976G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532976G>A , CM000685.2:g.154532976G>A	GRCh38
NC_000023.10:g.153761191G>A , CM000685.1:g.153761191G>A	GRCh37
NC_000023.9:g.153414385G>A	NCBI36
NG_009015.2:g.19597C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1017C>T	ENSP00000377194.2:p.Ala339=
ENST00000439227.6:c.1020C>T	ENSP00000395599.2:p.Ala340=
ENST00000696420.1:c.1017C>T	ENSP00000512615.1:p.Ala339=
ENST00000696421.1:c.1017C>T	ENSP00000512616.1:p.Ala339=
ENST00000696422.1:c.880C>T
ENST00000696423.1:c.883C>T
ENST00000696424.1:c.869C>T	ENSP00000512619.1:n.869C>T
ENST00000696425.1:c.865-174C>T	ENSP00000512620.1:n.865-174C>T
ENST00000696426.1:c.*477C>T	ENSP00000512621.1:n.*477C>T
ENST00000696427.1:c.1024C>T	ENSP00000512622.1:p.Arg342Cys
ENST00000696428.1:c.*859C>T	ENSP00000512623.1:n.*859C>T
ENST00000696429.1:c.1017C>T	ENSP00000512624.1:p.Ala339=
ENST00000696430.1:c.1017C>T	ENSP00000512625.1:p.Ala339=
ENST00000393562.10:c.1017C>T MANE Select	ENSP00000377192.3:p.Ala339=
ENST00000369620.6:c.1155C>T	ENSP00000358633.2:p.Ala385=
ENST00000393562.6:c.1107C>T	ENSP00000377192.2:p.Ala369=
ENST00000393564.6:c.1017C>T	ENSP00000377194.2:p.Ala339=
ENST00000490651.1:n.99C>T
ENST00000621232.4:c.1017C>T	ENSP00000483686.1:p.Ala339=
NM_000402.4:c.1107C>T	NP_000393.4:p.Ala369=
NM_001042351.2:c.1017C>T	NP_001035810.1:p.Ala339=
XM_005274657.2:c.1110C>T	XP_005274714.1:p.Ala370=
XM_005274658.2:c.1020C>T	XP_005274715.1:p.Ala340=
XM_011531132.1:c.958-174C>T	XP_011529434.1:n.958-174C>T
NM_001360016.2:c.1017C>T MANE Select	NP_001346945.1:p.Ala339=
NM_001042351.3:c.1017C>T	NP_001035810.1:p.Ala339=