Canonical Allele Identifier: CA2466723558
Gene: G6PD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532956T= , CM000685.2:g.154532956T= GRCh38
NC_000023.10:g.153761171T= , CM000685.1:g.153761171T= GRCh37
NC_000023.9:g.153414365T= NCBI36
NG_009015.2:g.19617A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.1037A= ENSP00000377194.2:p.Asn346=
ENST00000439227.6:c.1040A= ENSP00000395599.2:p.Asn347=
ENST00000696420.1:c.1037A= ENSP00000512615.1:p.Asn346=
ENST00000696421.1:c.1037A= ENSP00000512616.1:p.Asn346=
ENST00000696422.1:c.900A=
ENST00000696423.1:c.903A=
ENST00000696424.1:c.889A= ENSP00000512619.1:n.889A=
ENST00000696425.1:c.865-154A= ENSP00000512620.1:n.865-154A=
ENST00000696426.1:c.*497A= ENSP00000512621.1:n.*497A=
ENST00000696427.1:c.1044A= ENSP00000512622.1:p.Glu348=
ENST00000696428.1:c.*879A= ENSP00000512623.1:n.*879A=
ENST00000696429.1:c.1037A= ENSP00000512624.1:p.Asn346=
ENST00000696430.1:c.1037A= ENSP00000512625.1:p.Asn346=
ENST00000393562.10:c.1037A= MANE Select ENSP00000377192.3:p.Asn346=
ENST00000369620.6:c.1175A= ENSP00000358633.2:p.Asn392=
ENST00000393562.6:c.1127A= ENSP00000377192.2:p.Asn376=
ENST00000393564.6:c.1037A= ENSP00000377194.2:p.Asn346=
ENST00000490651.1:n.119A=
ENST00000621232.4:c.1037A= ENSP00000483686.1:p.Asn346=
NM_000402.4:c.1127A= NP_000393.4:p.Asn376=
NM_001042351.2:c.1037A= NP_001035810.1:p.Asn346=
XM_005274657.2:c.1130A= XP_005274714.1:p.Asn377=
XM_005274658.2:c.1040A= XP_005274715.1:p.Asn347=
XM_011531132.1:c.958-154A= XP_011529434.1:n.958-154A=
NM_001360016.2:c.1037A= MANE Select NP_001346945.1:p.Asn346=
NM_001042351.3:c.1037A= NP_001035810.1:p.Asn346=