Canonical Allele Identifier: CA415234899

Gene: G6PD

Linked Data

• dbSNP Id: rs2070361419
• MyVariant Identifiers: chrX:g.153761325T>C (hg19) ; chrX:g.154533110T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533110T>C , CM000685.2:g.154533110T>C	GRCh38
NC_000023.10:g.153761325T>C , CM000685.1:g.153761325T>C	GRCh37
NC_000023.9:g.153414519T>C	NCBI36
NG_009015.2:g.19463A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.883A>G	ENSP00000377194.2:p.Ile295Val
ENST00000439227.6:c.886A>G	ENSP00000395599.2:p.Ile296Val
ENST00000696420.1:c.883A>G	ENSP00000512615.1:p.Ile295Val
ENST00000696421.1:c.883A>G	ENSP00000512616.1:p.Ile295Val
ENST00000696422.1:c.746A>G
ENST00000696423.1:c.749A>G
ENST00000696424.1:c.735A>G	ENSP00000512619.1:n.735A>G
ENST00000696425.1:c.865-308A>G	ENSP00000512620.1:n.865-308A>G
ENST00000696426.1:c.*343A>G	ENSP00000512621.1:n.*343A>G
ENST00000696427.1:c.890A>G	ENSP00000512622.1:p.His297Arg
ENST00000696428.1:c.*725A>G	ENSP00000512623.1:n.*725A>G
ENST00000696429.1:c.883A>G	ENSP00000512624.1:p.Ile295Val
ENST00000696430.1:c.883A>G	ENSP00000512625.1:p.Ile295Val
ENST00000393562.10:c.883A>G MANE Select	ENSP00000377192.3:p.Ile295Val
ENST00000369620.6:c.1021A>G	ENSP00000358633.2:p.Ile341Val
ENST00000393562.6:c.973A>G	ENSP00000377192.2:p.Ile325Val
ENST00000393564.6:c.883A>G	ENSP00000377194.2:p.Ile295Val
ENST00000439227.5:c.886A>G	ENSP00000395599.1:p.Ile296Val
ENST00000440967.5:c.886A>G	ENSP00000400648.1:p.Ile296Val
ENST00000621232.4:c.883A>G	ENSP00000483686.1:p.Ile295Val
NM_000402.4:c.973A>G	NP_000393.4:p.Ile325Val
NM_001042351.2:c.883A>G	NP_001035810.1:p.Ile295Val
XM_005274657.2:c.976A>G	XP_005274714.1:p.Ile326Val
XM_005274658.2:c.886A>G	XP_005274715.1:p.Ile296Val
XM_011531132.1:c.958-308A>G	XP_011529434.1:n.958-308A>G
NM_001360016.2:c.883A>G MANE Select	NP_001346945.1:p.Ile295Val
NM_001042351.3:c.883A>G	NP_001035810.1:p.Ile295Val