Canonical Allele Identifier: CA120986
Gene: G6PD HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 10385
ClinVar RCV Id: RCV000011115
dbSNP Id: rs137852333

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532797G>A , CM000685.2:g.154532797G>A GRCh38
NC_000023.9:g.153414206G>A NCBI36
NC_000023.10:g.153761012G>A , CM000685.1:g.153761012G>A GRCh37
NG_009015.2:g.19776C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369620.6:c.1195C>T ENSP00000358633.2:p.Pro399Ser
ENST00000393562.6:c.1147C>T ENSP00000377192.2:p.Pro383Ser
ENST00000393564.6:c.1057C>T ENSP00000377194.2:p.Pro353Ser
ENST00000490651.1:n.278C>T
ENST00000621232.4:c.1057C>T ENSP00000483686.1:p.Pro353Ser
NM_000402.4:c.1147C>T VV NP_000393.4:p.Pro383Ser
NM_001042351.2:c.1057C>T VV NP_001035810.1:p.Pro353Ser
XM_005274657.2:c.1150C>T XP_005274714.1:p.Pro384Ser
XM_005274658.2:c.1060C>T XP_005274715.1:p.Pro354Ser
XM_011531132.1:c.963C>T XP_011529434.1:p.Cys321=
NM_001360016.2:c.1057C>T VV NP_001346945.1:p.Pro353Ser