Canonical Allele Identifier: CA415235180
Gene: G6PD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154533610G>T , CM000685.2:g.154533610G>T GRCh38
NC_000023.10:g.153761825G>T , CM000685.1:g.153761825G>T GRCh37
NC_000023.9:g.153415019G>T NCBI36
NG_009015.2:g.18963C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.830C>A ENSP00000377194.2:p.Ala277Asp
ENST00000439227.6:c.833C>A ENSP00000395599.2:p.Ala278Asp
ENST00000696420.1:c.830C>A ENSP00000512615.1:p.Ala277Asp
ENST00000696421.1:c.830C>A ENSP00000512616.1:p.Ala277Asp
ENST00000696422.1:c.693C>A
ENST00000696423.1:c.696C>A
ENST00000696424.1:c.682C>A ENSP00000512619.1:p.Pro228Thr
ENST00000696425.1:c.830C>A ENSP00000512620.1:p.Ala277Asp
ENST00000696426.1:c.830C>A ENSP00000512621.1:p.Ala277Asp
ENST00000696427.1:c.830C>A ENSP00000512622.1:p.Ala277Asp
ENST00000696428.1:c.*672C>A ENSP00000512623.1:n.*672C>A
ENST00000696429.1:c.830C>A ENSP00000512624.1:p.Ala277Asp
ENST00000696430.1:c.830C>A ENSP00000512625.1:p.Ala277Asp
ENST00000393562.10:c.830C>A MANE Select ENSP00000377192.3:p.Ala277Asp
ENST00000369620.6:c.968C>A ENSP00000358633.2:p.Ala323Asp
ENST00000393562.6:c.920C>A ENSP00000377192.2:p.Ala307Asp
ENST00000393564.6:c.830C>A ENSP00000377194.2:p.Ala277Asp
ENST00000439227.5:c.833C>A ENSP00000395599.1:p.Ala278Asp
ENST00000440967.5:c.833C>A ENSP00000400648.1:p.Ala278Asp
ENST00000489497.1:n.219C>A
ENST00000621232.4:c.830C>A ENSP00000483686.1:p.Ala277Asp
NM_000402.4:c.920C>A NP_000393.4:p.Ala307Asp
NM_001042351.2:c.830C>A NP_001035810.1:p.Ala277Asp
XM_005274657.2:c.923C>A XP_005274714.1:p.Ala308Asp
XM_005274658.2:c.833C>A XP_005274715.1:p.Ala278Asp
XM_011531132.1:c.923C>A XP_011529434.1:p.Ala308Asp
NM_001360016.2:c.830C>A MANE Select NP_001346945.1:p.Ala277Asp
NM_001042351.3:c.830C>A NP_001035810.1:p.Ala277Asp