Canonical Allele Identifier: CA2499226512
Gene: G6PD HGNC NCBI

Linked Data

ClinVar Variation Id: 1098495
ClinVar RCV Id: RCV001420428
dbSNP Id: rs2148330517

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154534338dup , CM000685.2:g.154534338dup GRCh38
NC_000023.10:g.153762553dup , CM000685.1:g.153762553dup GRCh37
NC_000023.9:g.153415747dup NCBI36
NG_009015.2:g.18236dup

Transcript Alleles

HGVS Amino-acid change
ENST00000393564.7:c.644+1dup
ENST00000439227.6:c.647+1dup
ENST00000696420.1:c.644+1dup
ENST00000696421.1:c.644+1dup
ENST00000696422.1:c.507+1dup
ENST00000696423.1:c.510+1dup
ENST00000696424.1:c.524+1dup
ENST00000696425.1:c.644+1dup
ENST00000696426.1:c.644+1dup
ENST00000696427.1:c.644+1dup
ENST00000696428.1:c.*486+1dup
ENST00000696429.1:c.644+1dup
ENST00000696430.1:c.644+1dup
ENST00000393562.10:c.644+1dup
ENST00000369620.6:c.644+1dup
ENST00000393562.6:c.734+1dup
ENST00000393564.6:c.644+1dup
ENST00000433845.1:c.644+1dup
ENST00000439227.5:c.647+1dup
ENST00000440967.5:c.647+1dup
ENST00000621232.4:c.644+1dup
NM_000402.4:c.734+1dup
NM_001042351.2:c.644+1dup
XM_005274657.2:c.737+1dup
XM_005274658.2:c.647+1dup
XM_011531132.1:c.737+1dup
NM_001360016.2:c.644+1dup
NM_001042351.3:c.644+1dup