Canonical Allele Identifier: CA2740130045

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533072C= , CM000685.2:g.154533072C=	GRCh38
NC_000023.10:g.153761287C= , CM000685.1:g.153761287C=	GRCh37
NC_000023.9:g.153414481C=	NCBI36
NG_009015.2:g.19501G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.921G=	ENSP00000377194.2:p.Gln307=
ENST00000439227.6:c.924G=	ENSP00000395599.2:p.Gln308=
ENST00000696420.1:c.921G=	ENSP00000512615.1:p.Gln307=
ENST00000696421.1:c.921G=	ENSP00000512616.1:p.Gln307=
ENST00000696422.1:c.784G=
ENST00000696423.1:c.787G=
ENST00000696424.1:c.773G=	ENSP00000512619.1:n.773G=
ENST00000696425.1:c.865-270G=	ENSP00000512620.1:n.865-270G=
ENST00000696426.1:c.*381G=	ENSP00000512621.1:n.*381G=
ENST00000696427.1:c.928G=	ENSP00000512622.1:p.Val310=
ENST00000696428.1:c.*763G=	ENSP00000512623.1:n.*763G=
ENST00000696429.1:c.921G=	ENSP00000512624.1:p.Gln307=
ENST00000696430.1:c.921G=	ENSP00000512625.1:p.Gln307=
ENST00000393562.10:c.921G= MANE Select	ENSP00000377192.3:p.Gln307=
ENST00000369620.6:c.1059G=	ENSP00000358633.2:p.Gln353=
ENST00000393562.6:c.1011G=	ENSP00000377192.2:p.Gln337=
ENST00000393564.6:c.921G=	ENSP00000377194.2:p.Gln307=
ENST00000439227.5:c.924G=	ENSP00000395599.1:p.Gln308=
ENST00000440967.5:c.924G=	ENSP00000400648.1:p.Gln308=
ENST00000490651.1:n.3G=
ENST00000621232.4:c.921G=	ENSP00000483686.1:p.Gln307=
NM_000402.4:c.1011G=	NP_000393.4:p.Gln337=
NM_001042351.2:c.921G=	NP_001035810.1:p.Gln307=
XM_005274657.2:c.1014G=	XP_005274714.1:p.Gln338=
XM_005274658.2:c.924G=	XP_005274715.1:p.Gln308=
XM_011531132.1:c.958-270G=	XP_011529434.1:n.958-270G=
NM_001360016.2:c.921G= MANE Select	NP_001346945.1:p.Gln307=
NM_001042351.3:c.921G=	NP_001035810.1:p.Gln307=