Canonical Allele Identifier: CA519303586

Gene: G6PD

Linked Data

• ClinVar Variation Id: 2897576
• ClinVar RCV Id: RCV003623903
• dbSNP Id: rs1557229893
• gnomAD v2: X-153761269-A-G
• gnomAD v4: X-154533054-A-G
• MyVariant Identifiers: chrX:g.153761269A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533054A>G , CM000685.2:g.154533054A>G	GRCh38
NC_000023.10:g.153761269A>G , CM000685.1:g.153761269A>G	GRCh37
NC_000023.9:g.153414463A>G	NCBI36
NG_009015.2:g.19519T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.939T>C	ENSP00000377194.2:p.Asp313=
ENST00000439227.6:c.942T>C	ENSP00000395599.2:p.Asp314=
ENST00000696420.1:c.939T>C	ENSP00000512615.1:p.Asp313=
ENST00000696421.1:c.939T>C	ENSP00000512616.1:p.Asp313=
ENST00000696422.1:c.802T>C
ENST00000696423.1:c.805T>C
ENST00000696424.1:c.791T>C	ENSP00000512619.1:n.791T>C
ENST00000696425.1:c.865-252T>C	ENSP00000512620.1:n.865-252T>C
ENST00000696426.1:c.*399T>C	ENSP00000512621.1:n.*399T>C
ENST00000696427.1:c.946T>C	ENSP00000512622.1:p.Trp316Arg
ENST00000696428.1:c.*781T>C	ENSP00000512623.1:n.*781T>C
ENST00000696429.1:c.939T>C	ENSP00000512624.1:p.Asp313=
ENST00000696430.1:c.939T>C	ENSP00000512625.1:p.Asp313=
ENST00000393562.10:c.939T>C MANE Select	ENSP00000377192.3:p.Asp313=
ENST00000369620.6:c.1077T>C	ENSP00000358633.2:p.Asp359=
ENST00000393562.6:c.1029T>C	ENSP00000377192.2:p.Asp343=
ENST00000393564.6:c.939T>C	ENSP00000377194.2:p.Asp313=
ENST00000439227.5:c.942T>C	ENSP00000395599.1:p.Asp314=
ENST00000440967.5:c.942T>C	ENSP00000400648.1:p.Asp314=
ENST00000490651.1:n.21T>C
ENST00000621232.4:c.939T>C	ENSP00000483686.1:p.Asp313=
NM_000402.4:c.1029T>C	NP_000393.4:p.Asp343=
NM_001042351.2:c.939T>C	NP_001035810.1:p.Asp313=
XM_005274657.2:c.1032T>C	XP_005274714.1:p.Asp344=
XM_005274658.2:c.942T>C	XP_005274715.1:p.Asp314=
XM_011531132.1:c.958-252T>C	XP_011529434.1:n.958-252T>C
NM_001360016.2:c.939T>C MANE Select	NP_001346945.1:p.Asp313=
NM_001042351.3:c.939T>C	NP_001035810.1:p.Asp313=