Canonical Allele Identifier: CA415233719

Gene: G6PD

Linked Data

• MyVariant Identifiers: chrX:g.153760646A>T (hg19) ; chrX:g.154532431A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532431A>T , CM000685.2:g.154532431A>T	GRCh38
NC_000023.10:g.153760646A>T , CM000685.1:g.153760646A>T	GRCh37
NC_000023.9:g.153413840A>T	NCBI36
NG_009015.2:g.20142T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1319T>A	ENSP00000377194.2:p.Leu440His
ENST00000439227.6:c.1322T>A	ENSP00000395599.2:p.Leu441His
ENST00000696420.1:c.1319T>A	ENSP00000512615.1:p.Leu440His
ENST00000696421.1:c.1319T>A	ENSP00000512616.1:p.Leu440His
ENST00000696422.1:c.1182T>A
ENST00000696423.1:c.1185T>A
ENST00000696424.1:c.1171T>A	ENSP00000512619.1:n.1171T>A
ENST00000696425.1:c.*232T>A	ENSP00000512620.1:n.*232T>A
ENST00000696426.1:c.*779T>A	ENSP00000512621.1:n.*779T>A
ENST00000696427.1:c.*279T>A	ENSP00000512622.1:n.*279T>A
ENST00000696428.1:c.*1161T>A	ENSP00000512623.1:n.*1161T>A
ENST00000696429.1:c.1319T>A	ENSP00000512624.1:p.Leu440His
ENST00000696430.1:c.1319T>A	ENSP00000512625.1:p.Leu440His
ENST00000393562.10:c.1319T>A MANE Select	ENSP00000377192.3:p.Leu440His
ENST00000369620.6:c.1457T>A	ENSP00000358633.2:p.Leu486His
ENST00000393562.6:c.1409T>A	ENSP00000377192.2:p.Leu470His
ENST00000393564.6:c.1319T>A	ENSP00000377194.2:p.Leu440His
ENST00000490651.1:n.540T>A
ENST00000621232.4:c.1319T>A	ENSP00000483686.1:p.Leu440His
NM_000402.4:c.1409T>A	NP_000393.4:p.Leu470His
NM_001042351.2:c.1319T>A	NP_001035810.1:p.Leu440His
XM_005274657.2:c.1412T>A	XP_005274714.1:p.Leu471His
XM_005274658.2:c.1322T>A	XP_005274715.1:p.Leu441His
NM_001360016.2:c.1319T>A MANE Select	NP_001346945.1:p.Leu440His
NM_001042351.3:c.1319T>A	NP_001035810.1:p.Leu440His