Canonical Allele Identifier: CA415234535

Gene: G6PD

Linked Data

• MyVariant Identifiers: chrX:g.153761240A>C (hg19) ; chrX:g.154533025A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533025A>C , CM000685.2:g.154533025A>C	GRCh38
NC_000023.10:g.153761240A>C , CM000685.1:g.153761240A>C	GRCh37
NC_000023.9:g.153414434A>C	NCBI36
NG_009015.2:g.19548T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.968T>G	ENSP00000377194.2:p.Leu323Arg
ENST00000439227.6:c.971T>G	ENSP00000395599.2:p.Leu324Arg
ENST00000696420.1:c.968T>G	ENSP00000512615.1:p.Leu323Arg
ENST00000696421.1:c.968T>G	ENSP00000512616.1:p.Leu323Arg
ENST00000696422.1:c.831T>G
ENST00000696423.1:c.834T>G
ENST00000696424.1:c.820T>G	ENSP00000512619.1:n.820T>G
ENST00000696425.1:c.865-223T>G	ENSP00000512620.1:n.865-223T>G
ENST00000696426.1:c.*428T>G	ENSP00000512621.1:n.*428T>G
ENST00000696427.1:c.975T>G	ENSP00000512622.1:p.Pro325=
ENST00000696428.1:c.*810T>G	ENSP00000512623.1:n.*810T>G
ENST00000696429.1:c.968T>G	ENSP00000512624.1:p.Leu323Arg
ENST00000696430.1:c.968T>G	ENSP00000512625.1:p.Leu323Arg
ENST00000393562.10:c.968T>G MANE Select	ENSP00000377192.3:p.Leu323Arg
ENST00000369620.6:c.1106T>G	ENSP00000358633.2:p.Leu369Arg
ENST00000393562.6:c.1058T>G	ENSP00000377192.2:p.Leu353Arg
ENST00000393564.6:c.968T>G	ENSP00000377194.2:p.Leu323Arg
ENST00000439227.5:c.971T>G	ENSP00000395599.1:p.Leu324Arg
ENST00000490651.1:n.50T>G
ENST00000621232.4:c.968T>G	ENSP00000483686.1:p.Leu323Arg
NM_000402.4:c.1058T>G	NP_000393.4:p.Leu353Arg
NM_001042351.2:c.968T>G	NP_001035810.1:p.Leu323Arg
XM_005274657.2:c.1061T>G	XP_005274714.1:p.Leu354Arg
XM_005274658.2:c.971T>G	XP_005274715.1:p.Leu324Arg
XM_011531132.1:c.958-223T>G	XP_011529434.1:n.958-223T>G
NM_001360016.2:c.968T>G MANE Select	NP_001346945.1:p.Leu323Arg
NM_001042351.3:c.968T>G	NP_001035810.1:p.Leu323Arg