Canonical Allele Identifier: CA121000
Gene: G6PD HGNC NCBI

Linked Data

ClinVar Variation Id: 10393
dbSNP Id: rs137852331

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154534489T>C , CM000685.2:g.154534489T>C GRCh38
NC_000023.10:g.153762704T>C , CM000685.1:g.153762704T>C GRCh37
NC_000023.9:g.153415898T>C NCBI36
NG_009015.2:g.18084A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000393564.7:c.493A>G ENSP00000377194.2:p.Asn165Asp
ENST00000439227.6:c.496A>G ENSP00000395599.2:p.Asn166Asp
ENST00000696420.1:c.493A>G ENSP00000512615.1:p.Asn165Asp
ENST00000696421.1:c.493A>G ENSP00000512616.1:p.Asn165Asp
ENST00000696422.1:c.356A>G
ENST00000696423.1:c.359A>G
ENST00000696424.1:c.373A>G ENSP00000512619.1:p.Asn125Asp
ENST00000696425.1:c.493A>G ENSP00000512620.1:p.Asn165Asp
ENST00000696426.1:c.493A>G ENSP00000512621.1:p.Asn165Asp
ENST00000696427.1:c.493A>G ENSP00000512622.1:p.Asn165Asp
ENST00000696428.1:c.*335A>G ENSP00000512623.1:n.*335A>G
ENST00000696429.1:c.493A>G ENSP00000512624.1:p.Asn165Asp
ENST00000696430.1:c.493A>G ENSP00000512625.1:p.Asn165Asp
ENST00000393562.10:c.493A>G MANE Select ENSP00000377192.3:p.Asn165Asp
ENST00000369620.6:c.493A>G ENSP00000358633.2:p.Asn165Asp
ENST00000393562.6:c.583A>G ENSP00000377192.2:p.Asn195Asp
ENST00000393564.6:c.493A>G ENSP00000377194.2:p.Asn165Asp
ENST00000433845.1:c.493A>G ENSP00000394690.1:p.Asn165Asp
ENST00000439227.5:c.496A>G ENSP00000395599.1:p.Asn166Asp
ENST00000440967.5:c.496A>G ENSP00000400648.1:p.Asn166Asp
ENST00000621232.4:c.493A>G ENSP00000483686.1:p.Asn165Asp
NM_000402.4:c.583A>G NP_000393.4:p.Asn195Asp
NM_001042351.2:c.493A>G NP_001035810.1:p.Asn165Asp
XM_005274657.2:c.586A>G XP_005274714.1:p.Asn196Asp
XM_005274658.2:c.496A>G XP_005274715.1:p.Asn166Asp
XM_011531132.1:c.586A>G XP_011529434.1:p.Asn196Asp
NM_001360016.2:c.493A>G MANE Select NP_001346945.1:p.Asn165Asp
NM_001042351.3:c.493A>G NP_001035810.1:p.Asn165Asp