Canonical Allele Identifier: CA120979

Gene: G6PD

Identifiers and link-outs to other resources

• ClinVar Variation Id: 100058
• ClinVar RCV Id: RCV000011104 ; RCV000011105 ; RCV000011106 ; RCV000011107 ; RCV000174272 ; RCV000375428 ; RCV000756195 ; RCV001000070
• dbSNP Id: rs72554665
• ExAC: X:153760484 C / A
• gnomAD: X:153760484 C / A
• MyVariant Identifiers: chrX:g.153760484C>A (hg19) ; chrX:g.154532269C>A (hg38)
• PubMed: PMID:16832 ; PMID:1562739 ; PMID:2263506 ; PMID:4283789 ; PMID:5485383 ; PMID:6714986 ; PMID:8447319 ; PMID:11024211 ; PMID:17587269 ; PMID:21874587 ; PMID:22171972 ; PMID:23891399 ; PMID:25440321

User contributed link-outs

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532269C>A , CM000685.2:g.154532269C>A	GRCh38
NC_000023.10:g.153760484C>A , CM000685.1:g.153760484C>A	GRCh37
NC_000023.9:g.153413678C>A	NCBI36
NG_009015.2:g.20304G>T

Transcript Alleles

HGVS	Amino-acid change
NM_000402.4:c.1466G>T VV	NP_000393.4:p.Arg489Leu
NM_001042351.2:c.1376G>T VV	NP_001035810.1:p.Arg459Leu
XM_005274657.2:c.1469G>T	XP_005274714.1:p.Arg490Leu
XM_005274658.2:c.1379G>T	XP_005274715.1:p.Arg460Leu
NM_001360016.2:c.1376G>T VV MANE Preferred	NP_001346945.1:p.Arg459Leu
NM_001042351.3:c.1376G>T VV	NP_001035810.1:p.Arg459Leu
ENST00000369620.6:c.1514G>T	ENSP00000358633.2:p.Arg505Leu
ENST00000393562.6:c.1466G>T	ENSP00000377192.2:p.Arg489Leu
ENST00000393564.6:c.1376G>T	ENSP00000377194.2:p.Arg459Leu
ENST00000490651.1:n.597G>T
ENST00000621232.4:c.1376G>T	ENSP00000483686.1:p.Arg459Leu