Canonical Allele Identifier: CA415234375
Gene: G6PD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532955A>T , CM000685.2:g.154532955A>T GRCh38
NC_000023.10:g.153761170A>T , CM000685.1:g.153761170A>T GRCh37
NC_000023.9:g.153414364A>T NCBI36
NG_009015.2:g.19618T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.1038T>A ENSP00000377194.2:p.Asn346Lys
ENST00000439227.6:c.1041T>A ENSP00000395599.2:p.Asn347Lys
ENST00000696420.1:c.1038T>A ENSP00000512615.1:p.Asn346Lys
ENST00000696421.1:c.1038T>A ENSP00000512616.1:p.Asn346Lys
ENST00000696422.1:c.901T>A
ENST00000696423.1:c.904T>A
ENST00000696424.1:c.890T>A ENSP00000512619.1:n.890T>A
ENST00000696425.1:c.865-153T>A ENSP00000512620.1:n.865-153T>A
ENST00000696426.1:c.*498T>A ENSP00000512621.1:n.*498T>A
ENST00000696427.1:c.1045T>A ENSP00000512622.1:p.Ter349Arg
ENST00000696428.1:c.*880T>A ENSP00000512623.1:n.*880T>A
ENST00000696429.1:c.1038T>A ENSP00000512624.1:p.Asn346Lys
ENST00000696430.1:c.1038T>A ENSP00000512625.1:p.Asn346Lys
ENST00000393562.10:c.1038T>A MANE Select ENSP00000377192.3:p.Asn346Lys
ENST00000369620.6:c.1176T>A ENSP00000358633.2:p.Asn392Lys
ENST00000393562.6:c.1128T>A ENSP00000377192.2:p.Asn376Lys
ENST00000393564.6:c.1038T>A ENSP00000377194.2:p.Asn346Lys
ENST00000490651.1:n.120T>A
ENST00000621232.4:c.1038T>A ENSP00000483686.1:p.Asn346Lys
NM_000402.4:c.1128T>A NP_000393.4:p.Asn376Lys
NM_001042351.2:c.1038T>A NP_001035810.1:p.Asn346Lys
XM_005274657.2:c.1131T>A XP_005274714.1:p.Asn377Lys
XM_005274658.2:c.1041T>A XP_005274715.1:p.Asn347Lys
XM_011531132.1:c.958-153T>A XP_011529434.1:n.958-153T>A
NM_001360016.2:c.1038T>A MANE Select NP_001346945.1:p.Asn346Lys
NM_001042351.3:c.1038T>A NP_001035810.1:p.Asn346Lys