Canonical Allele Identifier: CA415233621

Gene: G6PD

Linked Data

• ClinVar Variation Id: 1198343
• ClinVar RCV Id: RCV001562459 ; RCV002305616
• dbSNP Id: rs137852324
• MyVariant Identifiers: chrX:g.153760604C>G (hg19) ; chrX:g.154532389C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532389C>G , CM000685.2:g.154532389C>G	GRCh38
NC_000023.10:g.153760604C>G , CM000685.1:g.153760604C>G	GRCh37
NC_000023.9:g.153413798C>G	NCBI36
NG_009015.2:g.20184G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.1361G>C	ENSP00000377194.2:p.Arg454Pro
ENST00000439227.6:c.1364G>C	ENSP00000395599.2:p.Arg455Pro
ENST00000696420.1:c.1361G>C	ENSP00000512615.1:p.Arg454Pro
ENST00000696421.1:c.1361G>C	ENSP00000512616.1:p.Arg454Pro
ENST00000696422.1:c.1224G>C
ENST00000696423.1:c.1227G>C
ENST00000696424.1:c.1213G>C	ENSP00000512619.1:n.1213G>C
ENST00000696425.1:c.*274G>C	ENSP00000512620.1:n.*274G>C
ENST00000696426.1:c.*821G>C	ENSP00000512621.1:n.*821G>C
ENST00000696427.1:c.*321G>C	ENSP00000512622.1:n.*321G>C
ENST00000696428.1:c.*1203G>C	ENSP00000512623.1:n.*1203G>C
ENST00000696429.1:c.1361G>C	ENSP00000512624.1:p.Arg454Pro
ENST00000696430.1:c.1361G>C	ENSP00000512625.1:p.Arg454Pro
ENST00000393562.10:c.1361G>C MANE Select	ENSP00000377192.3:p.Arg454Pro
ENST00000369620.6:c.1499G>C	ENSP00000358633.2:p.Arg500Pro
ENST00000393562.6:c.1451G>C	ENSP00000377192.2:p.Arg484Pro
ENST00000393564.6:c.1361G>C	ENSP00000377194.2:p.Arg454Pro
ENST00000490651.1:n.582G>C
ENST00000621232.4:c.1361G>C	ENSP00000483686.1:p.Arg454Pro
NM_000402.4:c.1451G>C	NP_000393.4:p.Arg484Pro
NM_001042351.2:c.1361G>C	NP_001035810.1:p.Arg454Pro
XM_005274657.2:c.1454G>C	XP_005274714.1:p.Arg485Pro
XM_005274658.2:c.1364G>C	XP_005274715.1:p.Arg455Pro
NM_001360016.2:c.1361G>C MANE Select	NP_001346945.1:p.Arg454Pro
NM_001042351.3:c.1361G>C	NP_001035810.1:p.Arg454Pro