Canonical Allele Identifier: CA10566114

Gene: G6PD

Linked Data

• dbSNP Id: rs782326802
• ExAC: X:153761341 G / C
• gnomAD v2: X-153761341-G-C
• MyVariant Identifiers: chrX:g.153761341G>C (hg19) ; chrX:g.154533126G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533126G>C , CM000685.2:g.154533126G>C	GRCh38
NC_000023.10:g.153761341G>C , CM000685.1:g.153761341G>C	GRCh37
NC_000023.9:g.153414535G>C	NCBI36
NG_009015.2:g.19447C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.867C>G	ENSP00000377194.2:p.Val289=
ENST00000439227.6:c.870C>G	ENSP00000395599.2:p.Val290=
ENST00000696420.1:c.867C>G	ENSP00000512615.1:p.Val289=
ENST00000696421.1:c.867C>G	ENSP00000512616.1:p.Val289=
ENST00000696422.1:c.730C>G
ENST00000696423.1:c.733C>G
ENST00000696424.1:c.719C>G	ENSP00000512619.1:p.Ser240Ter
ENST00000696425.1:c.865-324C>G	ENSP00000512620.1:n.865-324C>G
ENST00000696426.1:c.*327C>G	ENSP00000512621.1:n.*327C>G
ENST00000696427.1:c.874C>G	ENSP00000512622.1:p.Gln292Glu
ENST00000696428.1:c.*709C>G	ENSP00000512623.1:n.*709C>G
ENST00000696429.1:c.867C>G	ENSP00000512624.1:p.Val289=
ENST00000696430.1:c.867C>G	ENSP00000512625.1:p.Val289=
ENST00000393562.10:c.867C>G MANE Select	ENSP00000377192.3:p.Val289=
ENST00000369620.6:c.1005C>G	ENSP00000358633.2:p.Val335=
ENST00000393562.6:c.957C>G	ENSP00000377192.2:p.Val319=
ENST00000393564.6:c.867C>G	ENSP00000377194.2:p.Val289=
ENST00000439227.5:c.870C>G	ENSP00000395599.1:p.Val290=
ENST00000440967.5:c.870C>G	ENSP00000400648.1:p.Val290=
ENST00000621232.4:c.867C>G	ENSP00000483686.1:p.Val289=
NM_000402.4:c.957C>G	NP_000393.4:p.Val319=
NM_001042351.2:c.867C>G	NP_001035810.1:p.Val289=
XM_005274657.2:c.960C>G	XP_005274714.1:p.Val320=
XM_005274658.2:c.870C>G	XP_005274715.1:p.Val290=
XM_011531132.1:c.958-324C>G	XP_011529434.1:n.958-324C>G
NM_001360016.2:c.867C>G MANE Select	NP_001346945.1:p.Val289=
NM_001042351.3:c.867C>G	NP_001035810.1:p.Val289=