Canonical Allele Identifier: CA415234361

Gene: G6PD

Linked Data

• MyVariant Identifiers: chrX:g.153761165C>A (hg19) ; chrX:g.154532950C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532950C>A , CM000685.2:g.154532950C>A	GRCh38
NC_000023.10:g.153761165C>A , CM000685.1:g.153761165C>A	GRCh37
NC_000023.9:g.153414359C>A	NCBI36
NG_009015.2:g.19623G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1043G>T	ENSP00000377194.2:p.Arg348Met
ENST00000439227.6:c.1046G>T	ENSP00000395599.2:p.Arg349Met
ENST00000696420.1:c.1043G>T	ENSP00000512615.1:p.Arg348Met
ENST00000696421.1:c.1043G>T	ENSP00000512616.1:p.Arg348Met
ENST00000696422.1:c.906G>T
ENST00000696423.1:c.909G>T
ENST00000696424.1:c.895G>T	ENSP00000512619.1:n.895G>T
ENST00000696425.1:c.865-148G>T	ENSP00000512620.1:n.865-148G>T
ENST00000696426.1:c.*503G>T	ENSP00000512621.1:n.*503G>T
ENST00000696427.1:c.*3G>T	ENSP00000512622.1:n.*3G>T
ENST00000696428.1:c.*885G>T	ENSP00000512623.1:n.*885G>T
ENST00000696429.1:c.1043G>T	ENSP00000512624.1:p.Arg348Met
ENST00000696430.1:c.1043G>T	ENSP00000512625.1:p.Arg348Met
ENST00000393562.10:c.1043G>T MANE Select	ENSP00000377192.3:p.Arg348Met
ENST00000369620.6:c.1181G>T	ENSP00000358633.2:p.Arg394Met
ENST00000393562.6:c.1133G>T	ENSP00000377192.2:p.Arg378Met
ENST00000393564.6:c.1043G>T	ENSP00000377194.2:p.Arg348Met
ENST00000490651.1:n.125G>T
ENST00000621232.4:c.1043G>T	ENSP00000483686.1:p.Arg348Met
NM_000402.4:c.1133G>T	NP_000393.4:p.Arg378Met
NM_001042351.2:c.1043G>T	NP_001035810.1:p.Arg348Met
XM_005274657.2:c.1136G>T	XP_005274714.1:p.Arg379Met
XM_005274658.2:c.1046G>T	XP_005274715.1:p.Arg349Met
XM_011531132.1:c.958-148G>T	XP_011529434.1:n.958-148G>T
NM_001360016.2:c.1043G>T MANE Select	NP_001346945.1:p.Arg348Met
NM_001042351.3:c.1043G>T	NP_001035810.1:p.Arg348Met