Canonical Allele Identifier: CA415234304
Gene: G6PD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532791T>A , CM000685.2:g.154532791T>A GRCh38
NC_000023.10:g.153761006T>A , CM000685.1:g.153761006T>A GRCh37
NC_000023.9:g.153414200T>A NCBI36
NG_009015.2:g.19782A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.1063A>T ENSP00000377194.2:p.Ile355Phe
ENST00000439227.6:c.1066A>T ENSP00000395599.2:p.Ile356Phe
ENST00000696420.1:c.1063A>T ENSP00000512615.1:p.Ile355Phe
ENST00000696421.1:c.1063A>T ENSP00000512616.1:p.Ile355Phe
ENST00000696422.1:c.926A>T
ENST00000696423.1:c.929A>T
ENST00000696424.1:c.915A>T ENSP00000512619.1:n.915A>T
ENST00000696425.1:c.876A>T ENSP00000512620.1:p.Ser292=
ENST00000696426.1:c.*523A>T ENSP00000512621.1:n.*523A>T
ENST00000696427.1:c.*23A>T ENSP00000512622.1:n.*23A>T
ENST00000696428.1:c.*905A>T ENSP00000512623.1:n.*905A>T
ENST00000696429.1:c.1063A>T ENSP00000512624.1:p.Ile355Phe
ENST00000696430.1:c.1063A>T ENSP00000512625.1:p.Ile355Phe
ENST00000393562.10:c.1063A>T MANE Select ENSP00000377192.3:p.Ile355Phe
ENST00000369620.6:c.1201A>T ENSP00000358633.2:p.Ile401Phe
ENST00000393562.6:c.1153A>T ENSP00000377192.2:p.Ile385Phe
ENST00000393564.6:c.1063A>T ENSP00000377194.2:p.Ile355Phe
ENST00000490651.1:n.284A>T
ENST00000621232.4:c.1063A>T ENSP00000483686.1:p.Ile355Phe
NM_000402.4:c.1153A>T NP_000393.4:p.Ile385Phe
NM_001042351.2:c.1063A>T NP_001035810.1:p.Ile355Phe
XM_005274657.2:c.1156A>T XP_005274714.1:p.Ile386Phe
XM_005274658.2:c.1066A>T XP_005274715.1:p.Ile356Phe
XM_011531132.1:c.969A>T XP_011529434.1:p.Ser323=
NM_001360016.2:c.1063A>T MANE Select NP_001346945.1:p.Ile355Phe
NM_001042351.3:c.1063A>T NP_001035810.1:p.Ile355Phe