Canonical Allele Identifier: CA415234669
Gene: G6PD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154533055T>A , CM000685.2:g.154533055T>A GRCh38
NC_000023.10:g.153761270T>A , CM000685.1:g.153761270T>A GRCh37
NC_000023.9:g.153414464T>A NCBI36
NG_009015.2:g.19518A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.938A>T ENSP00000377194.2:p.Asp313Val
ENST00000439227.6:c.941A>T ENSP00000395599.2:p.Asp314Val
ENST00000696420.1:c.938A>T ENSP00000512615.1:p.Asp313Val
ENST00000696421.1:c.938A>T ENSP00000512616.1:p.Asp313Val
ENST00000696422.1:c.801A>T
ENST00000696423.1:c.804A>T
ENST00000696424.1:c.790A>T ENSP00000512619.1:n.790A>T
ENST00000696425.1:c.865-253A>T ENSP00000512620.1:n.865-253A>T
ENST00000696426.1:c.*398A>T ENSP00000512621.1:n.*398A>T
ENST00000696427.1:c.945A>T ENSP00000512622.1:p.Arg315=
ENST00000696428.1:c.*780A>T ENSP00000512623.1:n.*780A>T
ENST00000696429.1:c.938A>T ENSP00000512624.1:p.Asp313Val
ENST00000696430.1:c.938A>T ENSP00000512625.1:p.Asp313Val
ENST00000393562.10:c.938A>T MANE Select ENSP00000377192.3:p.Asp313Val
ENST00000369620.6:c.1076A>T ENSP00000358633.2:p.Asp359Val
ENST00000393562.6:c.1028A>T ENSP00000377192.2:p.Asp343Val
ENST00000393564.6:c.938A>T ENSP00000377194.2:p.Asp313Val
ENST00000439227.5:c.941A>T ENSP00000395599.1:p.Asp314Val
ENST00000440967.5:c.941A>T ENSP00000400648.1:p.Asp314Val
ENST00000490651.1:n.20A>T
ENST00000621232.4:c.938A>T ENSP00000483686.1:p.Asp313Val
NM_000402.4:c.1028A>T NP_000393.4:p.Asp343Val
NM_001042351.2:c.938A>T NP_001035810.1:p.Asp313Val
XM_005274657.2:c.1031A>T XP_005274714.1:p.Asp344Val
XM_005274658.2:c.941A>T XP_005274715.1:p.Asp314Val
XM_011531132.1:c.958-253A>T XP_011529434.1:n.958-253A>T
NM_001360016.2:c.938A>T MANE Select NP_001346945.1:p.Asp313Val
NM_001042351.3:c.938A>T NP_001035810.1:p.Asp313Val