Canonical Allele Identifier: CA2466723586
Gene: G6PD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154533004C= , CM000685.2:g.154533004C= GRCh38
NC_000023.10:g.153761219C= , CM000685.1:g.153761219C= GRCh37
NC_000023.9:g.153414413C= NCBI36
NG_009015.2:g.19569G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.989G= ENSP00000377194.2:p.Arg330=
ENST00000439227.6:c.992G= ENSP00000395599.2:p.Arg331=
ENST00000696420.1:c.989G= ENSP00000512615.1:p.Arg330=
ENST00000696421.1:c.989G= ENSP00000512616.1:p.Arg330=
ENST00000696422.1:c.852G=
ENST00000696423.1:c.855G=
ENST00000696424.1:c.841G= ENSP00000512619.1:n.841G=
ENST00000696425.1:c.865-202G= ENSP00000512620.1:n.865-202G=
ENST00000696426.1:c.*449G= ENSP00000512621.1:n.*449G=
ENST00000696427.1:c.996G= ENSP00000512622.1:p.Pro332=
ENST00000696428.1:c.*831G= ENSP00000512623.1:n.*831G=
ENST00000696429.1:c.989G= ENSP00000512624.1:p.Arg330=
ENST00000696430.1:c.989G= ENSP00000512625.1:p.Arg330=
ENST00000393562.10:c.989G= MANE Select ENSP00000377192.3:p.Arg330=
ENST00000369620.6:c.1127G= ENSP00000358633.2:p.Arg376=
ENST00000393562.6:c.1079G= ENSP00000377192.2:p.Arg360=
ENST00000393564.6:c.989G= ENSP00000377194.2:p.Arg330=
ENST00000439227.5:c.992G= ENSP00000395599.1:p.Arg331=
ENST00000490651.1:n.71G=
ENST00000621232.4:c.989G= ENSP00000483686.1:p.Arg330=
NM_000402.4:c.1079G= NP_000393.4:p.Arg360=
NM_001042351.2:c.989G= NP_001035810.1:p.Arg330=
XM_005274657.2:c.1082G= XP_005274714.1:p.Arg361=
XM_005274658.2:c.992G= XP_005274715.1:p.Arg331=
XM_011531132.1:c.958-202G= XP_011529434.1:n.958-202G=
NM_001360016.2:c.989G= MANE Select NP_001346945.1:p.Arg330=
NM_001042351.3:c.989G= NP_001035810.1:p.Arg330=