Canonical Allele Identifier: CA415235037
Gene: G6PD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154533574A>T , CM000685.2:g.154533574A>T GRCh38
NC_000023.10:g.153761789A>T , CM000685.1:g.153761789A>T GRCh37
NC_000023.9:g.153414983A>T NCBI36
NG_009015.2:g.18999T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.864+2T>A ENSP00000377194.2:n.864+2T>A
ENST00000439227.6:c.867+2T>A ENSP00000395599.2:n.867+2T>A
ENST00000696420.1:c.864+2T>A ENSP00000512615.1:n.864+2T>A
ENST00000696421.1:c.864+2T>A ENSP00000512616.1:n.864+2T>A
ENST00000696422.1:c.727+2T>A
ENST00000696423.1:c.730+2T>A
ENST00000696424.1:c.716+2T>A ENSP00000512619.1:n.716+2T>A
ENST00000696425.1:c.864+2T>A ENSP00000512620.1:n.864+2T>A
ENST00000696426.1:c.864+2T>A ENSP00000512621.1:n.864+2T>A
ENST00000696427.1:c.866T>A ENSP00000512622.1:p.Val289Glu
ENST00000696428.1:c.*706+2T>A ENSP00000512623.1:n.*706+2T>A
ENST00000696429.1:c.864+2T>A ENSP00000512624.1:n.864+2T>A
ENST00000696430.1:c.864+2T>A ENSP00000512625.1:n.864+2T>A
ENST00000393562.10:c.864+2T>A MANE Select ENSP00000377192.3:n.864+2T>A
ENST00000369620.6:c.1002+2T>A ENSP00000358633.2:n.1002+2T>A
ENST00000393562.6:c.954+2T>A ENSP00000377192.2:n.954+2T>A
ENST00000393564.6:c.864+2T>A ENSP00000377194.2:n.864+2T>A
ENST00000439227.5:c.867+2T>A ENSP00000395599.1:n.867+2T>A
ENST00000440967.5:c.867+2T>A ENSP00000400648.1:n.867+2T>A
ENST00000489497.1:n.255T>A
ENST00000621232.4:c.864+2T>A ENSP00000483686.1:n.864+2T>A
NM_000402.4:c.954+2T>A NP_000393.4:n.954+2T>A
NM_001042351.2:c.864+2T>A NP_001035810.1:n.864+2T>A
XM_005274657.2:c.957+2T>A XP_005274714.1:n.957+2T>A
XM_005274658.2:c.867+2T>A XP_005274715.1:n.867+2T>A
XM_011531132.1:c.957+2T>A XP_011529434.1:n.957+2T>A
NM_001360016.2:c.864+2T>A MANE Select NP_001346945.1:n.864+2T>A
NM_001042351.3:c.864+2T>A NP_001035810.1:n.864+2T>A