Canonical Allele Identifier: CA519305249

Gene: G6PD

Linked Data

• ClinVar Variation Id: 1655105
• ClinVar RCV Id: RCV002156562
• dbSNP Id: rs137852319
• gnomAD v2: X-153762372-A-G
• gnomAD v3: X-154534157-A-G
• gnomAD v4: X-154534157-A-G
• MyVariant Identifiers: chrX:g.153762372A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154534157A>G , CM000685.2:g.154534157A>G	GRCh38
NC_000023.10:g.153762372A>G , CM000685.1:g.153762372A>G	GRCh37
NC_000023.9:g.153415566A>G	NCBI36
NG_009015.2:g.18416T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.648T>C	ENSP00000377194.2:p.Phe216=
ENST00000439227.6:c.651T>C	ENSP00000395599.2:p.Phe217=
ENST00000696420.1:c.648T>C	ENSP00000512615.1:p.Phe216=
ENST00000696421.1:c.648T>C	ENSP00000512616.1:p.Phe216=
ENST00000696422.1:c.511T>C
ENST00000696423.1:c.514T>C
ENST00000696424.1:c.528T>C	ENSP00000512619.1:p.Phe176=
ENST00000696425.1:c.648T>C	ENSP00000512620.1:p.Phe216=
ENST00000696426.1:c.648T>C	ENSP00000512621.1:p.Phe216=
ENST00000696427.1:c.648T>C	ENSP00000512622.1:p.Phe216=
ENST00000696428.1:c.*490T>C	ENSP00000512623.1:n.*490T>C
ENST00000696429.1:c.648T>C	ENSP00000512624.1:p.Phe216=
ENST00000696430.1:c.648T>C	ENSP00000512625.1:p.Phe216=
ENST00000393562.10:c.648T>C MANE Select	ENSP00000377192.3:p.Phe216=
ENST00000369620.6:c.648T>C	ENSP00000358633.2:p.Phe216=
ENST00000393562.6:c.738T>C	ENSP00000377192.2:p.Phe246=
ENST00000393564.6:c.648T>C	ENSP00000377194.2:p.Phe216=
ENST00000433845.1:c.648T>C	ENSP00000394690.1:p.Phe216=
ENST00000439227.5:c.651T>C	ENSP00000395599.1:p.Phe217=
ENST00000440967.5:c.651T>C	ENSP00000400648.1:p.Phe217=
ENST00000489497.1:n.37T>C
ENST00000621232.4:c.648T>C	ENSP00000483686.1:p.Phe216=
NM_000402.4:c.738T>C	NP_000393.4:p.Phe246=
NM_001042351.2:c.648T>C	NP_001035810.1:p.Phe216=
XM_005274657.2:c.741T>C	XP_005274714.1:p.Phe247=
XM_005274658.2:c.651T>C	XP_005274715.1:p.Phe217=
XM_011531132.1:c.741T>C	XP_011529434.1:p.Phe247=
NM_001360016.2:c.648T>C MANE Select	NP_001346945.1:p.Phe216=
NM_001042351.3:c.648T>C	NP_001035810.1:p.Phe216=