Canonical Allele Identifier: CA10566216

Gene: G6PD

Linked Data

• ClinVar Variation Id: 1943656
• ClinVar RCV Id: RCV002662975
• dbSNP Id: rs782366444
• ExAC: X:153762638 T / C
• gnomAD v2: X-153762638-T-C
• gnomAD v4: X-154534423-T-C
• MyVariant Identifiers: chrX:g.153762638T>C (hg19) ; chrX:g.154534423T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154534423T>C , CM000685.2:g.154534423T>C	GRCh38
NC_000023.10:g.153762638T>C , CM000685.1:g.153762638T>C	GRCh37
NC_000023.9:g.153415832T>C	NCBI36
NG_009015.2:g.18150A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.559A>G	ENSP00000377194.2:p.Ile187Val
ENST00000439227.6:c.562A>G	ENSP00000395599.2:p.Ile188Val
ENST00000696420.1:c.559A>G	ENSP00000512615.1:p.Ile187Val
ENST00000696421.1:c.559A>G	ENSP00000512616.1:p.Ile187Val
ENST00000696422.1:c.422A>G
ENST00000696423.1:c.425A>G
ENST00000696424.1:c.439A>G	ENSP00000512619.1:p.Ile147Val
ENST00000696425.1:c.559A>G	ENSP00000512620.1:p.Ile187Val
ENST00000696426.1:c.559A>G	ENSP00000512621.1:p.Ile187Val
ENST00000696427.1:c.559A>G	ENSP00000512622.1:p.Ile187Val
ENST00000696428.1:c.*401A>G	ENSP00000512623.1:n.*401A>G
ENST00000696429.1:c.559A>G	ENSP00000512624.1:p.Ile187Val
ENST00000696430.1:c.559A>G	ENSP00000512625.1:p.Ile187Val
ENST00000393562.10:c.559A>G MANE Select	ENSP00000377192.3:p.Ile187Val
ENST00000369620.6:c.559A>G	ENSP00000358633.2:p.Ile187Val
ENST00000393562.6:c.649A>G	ENSP00000377192.2:p.Ile217Val
ENST00000393564.6:c.559A>G	ENSP00000377194.2:p.Ile187Val
ENST00000433845.1:c.559A>G	ENSP00000394690.1:p.Ile187Val
ENST00000439227.5:c.562A>G	ENSP00000395599.1:p.Ile188Val
ENST00000440967.5:c.562A>G	ENSP00000400648.1:p.Ile188Val
ENST00000621232.4:c.559A>G	ENSP00000483686.1:p.Ile187Val
NM_000402.4:c.649A>G	NP_000393.4:p.Ile217Val
NM_001042351.2:c.559A>G	NP_001035810.1:p.Ile187Val
XM_005274657.2:c.652A>G	XP_005274714.1:p.Ile218Val
XM_005274658.2:c.562A>G	XP_005274715.1:p.Ile188Val
XM_011531132.1:c.652A>G	XP_011529434.1:p.Ile218Val
NM_001360016.2:c.559A>G MANE Select	NP_001346945.1:p.Ile187Val
NM_001042351.3:c.559A>G	NP_001035810.1:p.Ile187Val