Canonical Allele Identifier: CA415234916
Gene: G6PD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154533114T>A , CM000685.2:g.154533114T>A GRCh38
NC_000023.10:g.153761329T>A , CM000685.1:g.153761329T>A GRCh37
NC_000023.9:g.153414523T>A NCBI36
NG_009015.2:g.19459A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.879A>T ENSP00000377194.2:p.Lys293Asn
ENST00000439227.6:c.882A>T ENSP00000395599.2:p.Lys294Asn
ENST00000696420.1:c.879A>T ENSP00000512615.1:p.Lys293Asn
ENST00000696421.1:c.879A>T ENSP00000512616.1:p.Lys293Asn
ENST00000696422.1:c.742A>T
ENST00000696423.1:c.745A>T
ENST00000696424.1:c.731A>T ENSP00000512619.1:n.731A>T
ENST00000696425.1:c.865-312A>T ENSP00000512620.1:n.865-312A>T
ENST00000696426.1:c.*339A>T ENSP00000512621.1:n.*339A>T
ENST00000696427.1:c.886A>T ENSP00000512622.1:p.Met296Leu
ENST00000696428.1:c.*721A>T ENSP00000512623.1:n.*721A>T
ENST00000696429.1:c.879A>T ENSP00000512624.1:p.Lys293Asn
ENST00000696430.1:c.879A>T ENSP00000512625.1:p.Lys293Asn
ENST00000393562.10:c.879A>T MANE Select ENSP00000377192.3:p.Lys293Asn
ENST00000369620.6:c.1017A>T ENSP00000358633.2:p.Lys339Asn
ENST00000393562.6:c.969A>T ENSP00000377192.2:p.Lys323Asn
ENST00000393564.6:c.879A>T ENSP00000377194.2:p.Lys293Asn
ENST00000439227.5:c.882A>T ENSP00000395599.1:p.Lys294Asn
ENST00000440967.5:c.882A>T ENSP00000400648.1:p.Lys294Asn
ENST00000621232.4:c.879A>T ENSP00000483686.1:p.Lys293Asn
NM_000402.4:c.969A>T NP_000393.4:p.Lys323Asn
NM_001042351.2:c.879A>T NP_001035810.1:p.Lys293Asn
XM_005274657.2:c.972A>T XP_005274714.1:p.Lys324Asn
XM_005274658.2:c.882A>T XP_005274715.1:p.Lys294Asn
XM_011531132.1:c.958-312A>T XP_011529434.1:n.958-312A>T
NM_001360016.2:c.879A>T MANE Select NP_001346945.1:p.Lys293Asn
NM_001042351.3:c.879A>T NP_001035810.1:p.Lys293Asn