Canonical Allele Identifier: CA415234156
Gene: G6PD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532722C>A , CM000685.2:g.154532722C>A GRCh38
NC_000023.10:g.153760937C>A , CM000685.1:g.153760937C>A GRCh37
NC_000023.9:g.153414131C>A NCBI36
NG_009015.2:g.19851G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.1132G>T ENSP00000377194.2:p.Gly378Cys
ENST00000439227.6:c.1135G>T ENSP00000395599.2:p.Gly379Cys
ENST00000696420.1:c.1132G>T ENSP00000512615.1:p.Gly378Cys
ENST00000696421.1:c.1132G>T ENSP00000512616.1:p.Gly378Cys
ENST00000696422.1:c.995G>T
ENST00000696423.1:c.998G>T
ENST00000696424.1:c.984G>T ENSP00000512619.1:n.984G>T
ENST00000696425.1:c.*45G>T ENSP00000512620.1:n.*45G>T
ENST00000696426.1:c.*592G>T ENSP00000512621.1:n.*592G>T
ENST00000696427.1:c.*92G>T ENSP00000512622.1:n.*92G>T
ENST00000696428.1:c.*974G>T ENSP00000512623.1:n.*974G>T
ENST00000696429.1:c.1132G>T ENSP00000512624.1:p.Gly378Cys
ENST00000696430.1:c.1132G>T ENSP00000512625.1:p.Gly378Cys
ENST00000393562.10:c.1132G>T MANE Select ENSP00000377192.3:p.Gly378Cys
ENST00000369620.6:c.1270G>T ENSP00000358633.2:p.Gly424Cys
ENST00000393562.6:c.1222G>T ENSP00000377192.2:p.Gly408Cys
ENST00000393564.6:c.1132G>T ENSP00000377194.2:p.Gly378Cys
ENST00000490651.1:n.353G>T
ENST00000621232.4:c.1132G>T ENSP00000483686.1:p.Gly378Cys
NM_000402.4:c.1222G>T NP_000393.4:p.Gly408Cys
NM_001042351.2:c.1132G>T NP_001035810.1:p.Gly378Cys
XM_005274657.2:c.1225G>T XP_005274714.1:p.Gly409Cys
XM_005274658.2:c.1135G>T XP_005274715.1:p.Gly379Cys
XM_011531132.1:c.*45G>T XP_011529434.1:n.*45G>T
NM_001360016.2:c.1132G>T MANE Select NP_001346945.1:p.Gly378Cys
NM_001042351.3:c.1132G>T NP_001035810.1:p.Gly378Cys