Canonical Allele Identifier: CA415234457
Gene: G6PD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532996T>A , CM000685.2:g.154532996T>A GRCh38
NC_000023.10:g.153761211T>A , CM000685.1:g.153761211T>A GRCh37
NC_000023.9:g.153414405T>A NCBI36
NG_009015.2:g.19577A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.997A>T ENSP00000377194.2:p.Thr333Ser
ENST00000439227.6:c.1000A>T ENSP00000395599.2:p.Thr334Ser
ENST00000696420.1:c.997A>T ENSP00000512615.1:p.Thr333Ser
ENST00000696421.1:c.997A>T ENSP00000512616.1:p.Thr333Ser
ENST00000696422.1:c.860A>T
ENST00000696423.1:c.863A>T
ENST00000696424.1:c.849A>T ENSP00000512619.1:n.849A>T
ENST00000696425.1:c.865-194A>T ENSP00000512620.1:n.865-194A>T
ENST00000696426.1:c.*457A>T ENSP00000512621.1:n.*457A>T
ENST00000696427.1:c.1004A>T ENSP00000512622.1:p.His335Leu
ENST00000696428.1:c.*839A>T ENSP00000512623.1:n.*839A>T
ENST00000696429.1:c.997A>T ENSP00000512624.1:p.Thr333Ser
ENST00000696430.1:c.997A>T ENSP00000512625.1:p.Thr333Ser
ENST00000393562.10:c.997A>T MANE Select ENSP00000377192.3:p.Thr333Ser
ENST00000369620.6:c.1135A>T ENSP00000358633.2:p.Thr379Ser
ENST00000393562.6:c.1087A>T ENSP00000377192.2:p.Thr363Ser
ENST00000393564.6:c.997A>T ENSP00000377194.2:p.Thr333Ser
ENST00000439227.5:c.1000A>T ENSP00000395599.1:p.Thr334Ser
ENST00000490651.1:n.79A>T
ENST00000621232.4:c.997A>T ENSP00000483686.1:p.Thr333Ser
NM_000402.4:c.1087A>T NP_000393.4:p.Thr363Ser
NM_001042351.2:c.997A>T NP_001035810.1:p.Thr333Ser
XM_005274657.2:c.1090A>T XP_005274714.1:p.Thr364Ser
XM_005274658.2:c.1000A>T XP_005274715.1:p.Thr334Ser
XM_011531132.1:c.958-194A>T XP_011529434.1:n.958-194A>T
NM_001360016.2:c.997A>T MANE Select NP_001346945.1:p.Thr333Ser
NM_001042351.3:c.997A>T NP_001035810.1:p.Thr333Ser