Canonical Allele Identifier: CA203034
Gene: G6PD HGNC NCBI

Linked Data

ClinVar Variation Id: 93499
dbSNP Id: rs78365220

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154535270A>G , CM000685.2:g.154535270A>G GRCh38
NC_000023.10:g.153763485A>G , CM000685.1:g.153763485A>G GRCh37
NC_000023.9:g.153416679A>G NCBI36
NG_009015.2:g.17303T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000393562.10:c.383T>C MANE Select ENSP00000377192.3:p.Leu128Pro
ENST00000369620.6:c.383T>C ENSP00000358633.2:p.Leu128Pro
ENST00000393562.6:c.473T>C ENSP00000377192.2:p.Leu158Pro
ENST00000393564.6:c.383T>C ENSP00000377194.2:p.Leu128Pro
ENST00000433845.1:c.383T>C ENSP00000394690.1:p.Leu128Pro
ENST00000439227.5:c.383T>C ENSP00000395599.1:p.Leu128Pro
ENST00000440967.5:c.383T>C ENSP00000400648.1:p.Leu128Pro
ENST00000497281.5:n.337T>C
ENST00000621232.4:c.383T>C ENSP00000483686.1:p.Leu128Pro
NM_000402.4:c.473T>C NP_000393.4:p.Leu158Pro
NM_001042351.2:c.383T>C NP_001035810.1:p.Leu128Pro
XM_005274657.2:c.473T>C XP_005274714.1:p.Leu158Pro
XM_005274658.2:c.383T>C XP_005274715.1:p.Leu128Pro
XM_011531132.1:c.473T>C XP_011529434.1:p.Leu158Pro
NM_001360016.2:c.383T>C MANE Select NP_001346945.1:p.Leu128Pro
NM_001042351.3:c.383T>C NP_001035810.1:p.Leu128Pro