Canonical Allele Identifier: CA415234791

Gene: G6PD

Linked Data

• MyVariant Identifiers: chrX:g.153761298C>T (hg19) ; chrX:g.154533083C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533083C>T , CM000685.2:g.154533083C>T	GRCh38
NC_000023.10:g.153761298C>T , CM000685.1:g.153761298C>T	GRCh37
NC_000023.9:g.153414492C>T	NCBI36
NG_009015.2:g.19490G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.910G>A	ENSP00000377194.2:p.Val304Ile
ENST00000439227.6:c.913G>A	ENSP00000395599.2:p.Val305Ile
ENST00000696420.1:c.910G>A	ENSP00000512615.1:p.Val304Ile
ENST00000696421.1:c.910G>A	ENSP00000512616.1:p.Val304Ile
ENST00000696422.1:c.773G>A
ENST00000696423.1:c.776G>A
ENST00000696424.1:c.762G>A	ENSP00000512619.1:n.762G>A
ENST00000696425.1:c.865-281G>A	ENSP00000512620.1:n.865-281G>A
ENST00000696426.1:c.*370G>A	ENSP00000512621.1:n.*370G>A
ENST00000696427.1:c.917G>A	ENSP00000512622.1:p.Gly306Asp
ENST00000696428.1:c.*752G>A	ENSP00000512623.1:n.*752G>A
ENST00000696429.1:c.910G>A	ENSP00000512624.1:p.Val304Ile
ENST00000696430.1:c.910G>A	ENSP00000512625.1:p.Val304Ile
ENST00000393562.10:c.910G>A MANE Select	ENSP00000377192.3:p.Val304Ile
ENST00000369620.6:c.1048G>A	ENSP00000358633.2:p.Val350Ile
ENST00000393562.6:c.1000G>A	ENSP00000377192.2:p.Val334Ile
ENST00000393564.6:c.910G>A	ENSP00000377194.2:p.Val304Ile
ENST00000439227.5:c.913G>A	ENSP00000395599.1:p.Val305Ile
ENST00000440967.5:c.913G>A	ENSP00000400648.1:p.Val305Ile
ENST00000621232.4:c.910G>A	ENSP00000483686.1:p.Val304Ile
NM_000402.4:c.1000G>A	NP_000393.4:p.Val334Ile
NM_001042351.2:c.910G>A	NP_001035810.1:p.Val304Ile
XM_005274657.2:c.1003G>A	XP_005274714.1:p.Val335Ile
XM_005274658.2:c.913G>A	XP_005274715.1:p.Val305Ile
XM_011531132.1:c.958-281G>A	XP_011529434.1:n.958-281G>A
NM_001360016.2:c.910G>A MANE Select	NP_001346945.1:p.Val304Ile
NM_001042351.3:c.910G>A	NP_001035810.1:p.Val304Ile