Canonical Allele Identifier: CA519305260

Gene: G6PD

Linked Data

• ClinVar Variation Id: 1621715
• ClinVar RCV Id: RCV002101845
• dbSNP Id: rs781866029
• gnomAD v4: X-154534349-G-C
• MyVariant Identifiers: chrX:g.153762564G>C (hg19) ; chrX:g.154534349G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154534349G>C , CM000685.2:g.154534349G>C	GRCh38
NC_000023.10:g.153762564G>C , CM000685.1:g.153762564G>C	GRCh37
NC_000023.9:g.153415758G>C	NCBI36
NG_009015.2:g.18224C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.633C>G	ENSP00000377194.2:p.Leu211=
ENST00000439227.6:c.636C>G	ENSP00000395599.2:p.Leu212=
ENST00000696420.1:c.633C>G	ENSP00000512615.1:p.Leu211=
ENST00000696421.1:c.633C>G	ENSP00000512616.1:p.Leu211=
ENST00000696422.1:c.496C>G
ENST00000696423.1:c.499C>G
ENST00000696424.1:c.513C>G	ENSP00000512619.1:p.Leu171=
ENST00000696425.1:c.633C>G	ENSP00000512620.1:p.Leu211=
ENST00000696426.1:c.633C>G	ENSP00000512621.1:p.Leu211=
ENST00000696427.1:c.633C>G	ENSP00000512622.1:p.Leu211=
ENST00000696428.1:c.*475C>G	ENSP00000512623.1:n.*475C>G
ENST00000696429.1:c.633C>G	ENSP00000512624.1:p.Leu211=
ENST00000696430.1:c.633C>G	ENSP00000512625.1:p.Leu211=
ENST00000393562.10:c.633C>G MANE Select	ENSP00000377192.3:p.Leu211=
ENST00000369620.6:c.633C>G	ENSP00000358633.2:p.Leu211=
ENST00000393562.6:c.723C>G	ENSP00000377192.2:p.Leu241=
ENST00000393564.6:c.633C>G	ENSP00000377194.2:p.Leu211=
ENST00000433845.1:c.633C>G	ENSP00000394690.1:p.Leu211=
ENST00000439227.5:c.636C>G	ENSP00000395599.1:p.Leu212=
ENST00000440967.5:c.636C>G	ENSP00000400648.1:p.Leu212=
ENST00000621232.4:c.633C>G	ENSP00000483686.1:p.Leu211=
NM_000402.4:c.723C>G	NP_000393.4:p.Leu241=
NM_001042351.2:c.633C>G	NP_001035810.1:p.Leu211=
XM_005274657.2:c.726C>G	XP_005274714.1:p.Leu242=
XM_005274658.2:c.636C>G	XP_005274715.1:p.Leu212=
XM_011531132.1:c.726C>G	XP_011529434.1:p.Leu242=
NM_001360016.2:c.633C>G MANE Select	NP_001346945.1:p.Leu211=
NM_001042351.3:c.633C>G	NP_001035810.1:p.Leu211=