Canonical Allele Identifier: CA415232672

Gene: G6PD

Linked Data

• MyVariant Identifiers: chrX:g.153760488G>C (hg19) ; chrX:g.154532273G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532273G>C , CM000685.2:g.154532273G>C	GRCh38
NC_000023.10:g.153760488G>C , CM000685.1:g.153760488G>C	GRCh37
NC_000023.9:g.153413682G>C	NCBI36
NG_009015.2:g.20300C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1372C>G	ENSP00000377194.2:p.Leu458Val
ENST00000439227.6:c.1375C>G	ENSP00000395599.2:p.Leu459Val
ENST00000696420.1:c.1372C>G	ENSP00000512615.1:p.Leu458Val
ENST00000696421.1:c.1372C>G	ENSP00000512616.1:p.Leu458Val
ENST00000696422.1:c.1235C>G
ENST00000696423.1:c.1238C>G
ENST00000696424.1:c.1224C>G	ENSP00000512619.1:n.1224C>G
ENST00000696425.1:c.*285C>G	ENSP00000512620.1:n.*285C>G
ENST00000696426.1:c.*832C>G	ENSP00000512621.1:n.*832C>G
ENST00000696427.1:c.*332C>G	ENSP00000512622.1:n.*332C>G
ENST00000696428.1:c.*1214C>G	ENSP00000512623.1:n.*1214C>G
ENST00000696429.1:c.1372C>G	ENSP00000512624.1:p.Leu458Val
ENST00000696430.1:c.1372C>G	ENSP00000512625.1:p.Leu458Val
ENST00000393562.10:c.1372C>G MANE Select	ENSP00000377192.3:p.Leu458Val
ENST00000369620.6:c.1510C>G	ENSP00000358633.2:p.Leu504Val
ENST00000393562.6:c.1462C>G	ENSP00000377192.2:p.Leu488Val
ENST00000393564.6:c.1372C>G	ENSP00000377194.2:p.Leu458Val
ENST00000490651.1:n.593C>G
ENST00000621232.4:c.1372C>G	ENSP00000483686.1:p.Leu458Val
NM_000402.4:c.1462C>G	NP_000393.4:p.Leu488Val
NM_001042351.2:c.1372C>G	NP_001035810.1:p.Leu458Val
XM_005274657.2:c.1465C>G	XP_005274714.1:p.Leu489Val
XM_005274658.2:c.1375C>G	XP_005274715.1:p.Leu459Val
NM_001360016.2:c.1372C>G MANE Select	NP_001346945.1:p.Leu458Val
NM_001042351.3:c.1372C>G	NP_001035810.1:p.Leu458Val