Canonical Allele Identifier: CA120984

Gene: G6PD

Linked Data

• ClinVar Variation Id: 10383
• ClinVar RCV Id: RCV002287328
• dbSNP Id: rs137852326
• MyVariant Identifiers: chrX:g.153762560C>A (hg19) ; chrX:g.154534345C>A (hg38)
• PubMed: PMID:1978554

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154534345C>A , CM000685.2:g.154534345C>A	GRCh38
NC_000023.10:g.153762560C>A , CM000685.1:g.153762560C>A	GRCh37
NC_000023.9:g.153415754C>A	NCBI36
NG_009015.2:g.18228G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.637G>T	ENSP00000377194.2:p.Val213Leu
ENST00000439227.6:c.640G>T	ENSP00000395599.2:p.Val214Leu
ENST00000696420.1:c.637G>T	ENSP00000512615.1:p.Val213Leu
ENST00000696421.1:c.637G>T	ENSP00000512616.1:p.Val213Leu
ENST00000696422.1:c.500G>T
ENST00000696423.1:c.503G>T
ENST00000696424.1:c.517G>T	ENSP00000512619.1:p.Val173Leu
ENST00000696425.1:c.637G>T	ENSP00000512620.1:p.Val213Leu
ENST00000696426.1:c.637G>T	ENSP00000512621.1:p.Val213Leu
ENST00000696427.1:c.637G>T	ENSP00000512622.1:p.Val213Leu
ENST00000696428.1:c.*479G>T	ENSP00000512623.1:n.*479G>T
ENST00000696429.1:c.637G>T	ENSP00000512624.1:p.Val213Leu
ENST00000696430.1:c.637G>T	ENSP00000512625.1:p.Val213Leu
ENST00000393562.10:c.637G>T MANE Select	ENSP00000377192.3:p.Val213Leu
ENST00000369620.6:c.637G>T	ENSP00000358633.2:p.Val213Leu
ENST00000393562.6:c.727G>T	ENSP00000377192.2:p.Val243Leu
ENST00000393564.6:c.637G>T	ENSP00000377194.2:p.Val213Leu
ENST00000433845.1:c.637G>T	ENSP00000394690.1:p.Val213Leu
ENST00000439227.5:c.640G>T	ENSP00000395599.1:p.Val214Leu
ENST00000440967.5:c.640G>T	ENSP00000400648.1:p.Val214Leu
ENST00000621232.4:c.637G>T	ENSP00000483686.1:p.Val213Leu
NM_000402.4:c.727G>T	NP_000393.4:p.Val243Leu
NM_001042351.2:c.637G>T	NP_001035810.1:p.Val213Leu
XM_005274657.2:c.730G>T	XP_005274714.1:p.Val244Leu
XM_005274658.2:c.640G>T	XP_005274715.1:p.Val214Leu
XM_011531132.1:c.730G>T	XP_011529434.1:p.Val244Leu
NM_001360016.2:c.637G>T MANE Select	NP_001346945.1:p.Val213Leu
NM_001042351.3:c.637G>T	NP_001035810.1:p.Val213Leu