Canonical Allele Identifier: CA415235104

Gene: G6PD

Linked Data

• ClinVar Variation Id: 445710
• ClinVar RCV Id: RCV000514766 ; RCV003989112
• dbSNP Id: rs1557230040
• MyVariant Identifiers: chrX:g.153761807T>A (hg19) ; chrX:g.154533592T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533592T>A , CM000685.2:g.154533592T>A	GRCh38
NC_000023.10:g.153761807T>A , CM000685.1:g.153761807T>A	GRCh37
NC_000023.9:g.153415001T>A	NCBI36
NG_009015.2:g.18981A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.848A>T	ENSP00000377194.2:p.Asp283Val
ENST00000439227.6:c.851A>T	ENSP00000395599.2:p.Asp284Val
ENST00000696420.1:c.848A>T	ENSP00000512615.1:p.Asp283Val
ENST00000696421.1:c.848A>T	ENSP00000512616.1:p.Asp283Val
ENST00000696422.1:c.711A>T
ENST00000696423.1:c.714A>T
ENST00000696424.1:c.700A>T	ENSP00000512619.1:p.Thr234Ser
ENST00000696425.1:c.848A>T	ENSP00000512620.1:p.Asp283Val
ENST00000696426.1:c.848A>T	ENSP00000512621.1:p.Asp283Val
ENST00000696427.1:c.848A>T	ENSP00000512622.1:p.Asp283Val
ENST00000696428.1:c.*690A>T	ENSP00000512623.1:n.*690A>T
ENST00000696429.1:c.848A>T	ENSP00000512624.1:p.Asp283Val
ENST00000696430.1:c.848A>T	ENSP00000512625.1:p.Asp283Val
ENST00000393562.10:c.848A>T MANE Select	ENSP00000377192.3:p.Asp283Val
ENST00000369620.6:c.986A>T	ENSP00000358633.2:p.Asp329Val
ENST00000393562.6:c.938A>T	ENSP00000377192.2:p.Asp313Val
ENST00000393564.6:c.848A>T	ENSP00000377194.2:p.Asp283Val
ENST00000439227.5:c.851A>T	ENSP00000395599.1:p.Asp284Val
ENST00000440967.5:c.851A>T	ENSP00000400648.1:p.Asp284Val
ENST00000489497.1:n.237A>T
ENST00000621232.4:c.848A>T	ENSP00000483686.1:p.Asp283Val
NM_000402.4:c.938A>T	NP_000393.4:p.Asp313Val
NM_001042351.2:c.848A>T	NP_001035810.1:p.Asp283Val
XM_005274657.2:c.941A>T	XP_005274714.1:p.Asp314Val
XM_005274658.2:c.851A>T	XP_005274715.1:p.Asp284Val
XM_011531132.1:c.941A>T	XP_011529434.1:p.Asp314Val
NM_001360016.2:c.848A>T MANE Select	NP_001346945.1:p.Asp283Val
NM_001042351.3:c.848A>T	NP_001035810.1:p.Asp283Val