Canonical Allele Identifier: CA415233722
Gene: G6PD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532432G>T , CM000685.2:g.154532432G>T GRCh38
NC_000023.10:g.153760647G>T , CM000685.1:g.153760647G>T GRCh37
NC_000023.9:g.153413841G>T NCBI36
NG_009015.2:g.20141C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.1318C>A ENSP00000377194.2:p.Leu440Ile
ENST00000439227.6:c.1321C>A ENSP00000395599.2:p.Leu441Ile
ENST00000696420.1:c.1318C>A ENSP00000512615.1:p.Leu440Ile
ENST00000696421.1:c.1318C>A ENSP00000512616.1:p.Leu440Ile
ENST00000696422.1:c.1181C>A
ENST00000696423.1:c.1184C>A
ENST00000696424.1:c.1170C>A ENSP00000512619.1:n.1170C>A
ENST00000696425.1:c.*231C>A ENSP00000512620.1:n.*231C>A
ENST00000696426.1:c.*778C>A ENSP00000512621.1:n.*778C>A
ENST00000696427.1:c.*278C>A ENSP00000512622.1:n.*278C>A
ENST00000696428.1:c.*1160C>A ENSP00000512623.1:n.*1160C>A
ENST00000696429.1:c.1318C>A ENSP00000512624.1:p.Leu440Ile
ENST00000696430.1:c.1318C>A ENSP00000512625.1:p.Leu440Ile
ENST00000393562.10:c.1318C>A MANE Select ENSP00000377192.3:p.Leu440Ile
ENST00000369620.6:c.1456C>A ENSP00000358633.2:p.Leu486Ile
ENST00000393562.6:c.1408C>A ENSP00000377192.2:p.Leu470Ile
ENST00000393564.6:c.1318C>A ENSP00000377194.2:p.Leu440Ile
ENST00000490651.1:n.539C>A
ENST00000621232.4:c.1318C>A ENSP00000483686.1:p.Leu440Ile
NM_000402.4:c.1408C>A NP_000393.4:p.Leu470Ile
NM_001042351.2:c.1318C>A NP_001035810.1:p.Leu440Ile
XM_005274657.2:c.1411C>A XP_005274714.1:p.Leu471Ile
XM_005274658.2:c.1321C>A XP_005274715.1:p.Leu441Ile
NM_001360016.2:c.1318C>A MANE Select NP_001346945.1:p.Leu440Ile
NM_001042351.3:c.1318C>A NP_001035810.1:p.Leu440Ile