Canonical Allele Identifier: CA203726

Gene: G6PD

Linked Data

• ClinVar Variation Id: 93489
• ClinVar RCV Id: RCV000180548 ; RCV001166654 ; RCV001500096 ; RCV002509203
• dbSNP Id: rs34193178
• ExAC: X:153761160 C / G
• gnomAD v2: X-153761160-C-G
• gnomAD v3: X-154532945-C-G
• gnomAD v4: X-154532945-C-G
• MyVariant Identifiers: chrX:g.153761160C>G (hg19) ; chrX:g.154532945C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532945C>G , CM000685.2:g.154532945C>G	GRCh38
NC_000023.10:g.153761160C>G , CM000685.1:g.153761160C>G	GRCh37
NC_000023.9:g.153414354C>G	NCBI36
NG_009015.2:g.19628G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1048G>C	ENSP00000377194.2:p.Asp350His
ENST00000439227.6:c.1051G>C	ENSP00000395599.2:p.Asp351His
ENST00000696420.1:c.1048G>C	ENSP00000512615.1:p.Asp350His
ENST00000696421.1:c.1048G>C	ENSP00000512616.1:p.Asp350His
ENST00000696422.1:c.911G>C
ENST00000696423.1:c.914G>C
ENST00000696424.1:c.900G>C	ENSP00000512619.1:n.900G>C
ENST00000696425.1:c.865-143G>C	ENSP00000512620.1:n.865-143G>C
ENST00000696426.1:c.*508G>C	ENSP00000512621.1:n.*508G>C
ENST00000696427.1:c.*8G>C	ENSP00000512622.1:n.*8G>C
ENST00000696428.1:c.*890G>C	ENSP00000512623.1:n.*890G>C
ENST00000696429.1:c.1048G>C	ENSP00000512624.1:p.Asp350His
ENST00000696430.1:c.1048G>C	ENSP00000512625.1:p.Asp350His
ENST00000393562.10:c.1048G>C MANE Select	ENSP00000377192.3:p.Asp350His
ENST00000369620.6:c.1186G>C	ENSP00000358633.2:p.Asp396His
ENST00000393562.6:c.1138G>C	ENSP00000377192.2:p.Asp380His
ENST00000393564.6:c.1048G>C	ENSP00000377194.2:p.Asp350His
ENST00000490651.1:n.130G>C
ENST00000621232.4:c.1048G>C	ENSP00000483686.1:p.Asp350His
NM_000402.4:c.1138G>C	NP_000393.4:p.Asp380His
NM_001042351.2:c.1048G>C	NP_001035810.1:p.Asp350His
XM_005274657.2:c.1141G>C	XP_005274714.1:p.Asp381His
XM_005274658.2:c.1051G>C	XP_005274715.1:p.Asp351His
XM_011531132.1:c.958-143G>C	XP_011529434.1:n.958-143G>C
NM_001360016.2:c.1048G>C MANE Select	NP_001346945.1:p.Asp350His
NM_001042351.3:c.1048G>C	NP_001035810.1:p.Asp350His