Canonical Allele Identifier: CA415235272

Gene: G6PD

Linked Data

• ClinVar Variation Id: 1722759
• ClinVar RCV Id: RCV002305869
• MyVariant Identifiers: chrX:g.153761844C>G (hg19) ; chrX:g.154533629C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533629C>G , CM000685.2:g.154533629C>G	GRCh38
NC_000023.10:g.153761844C>G , CM000685.1:g.153761844C>G	GRCh37
NC_000023.9:g.153415038C>G	NCBI36
NG_009015.2:g.18944G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.811G>C	ENSP00000377194.2:p.Val271Leu
ENST00000439227.6:c.814G>C	ENSP00000395599.2:p.Val272Leu
ENST00000696420.1:c.811G>C	ENSP00000512615.1:p.Val271Leu
ENST00000696421.1:c.811G>C	ENSP00000512616.1:p.Val271Leu
ENST00000696422.1:c.674G>C
ENST00000696423.1:c.677G>C
ENST00000696424.1:c.663G>C	ENSP00000512619.1:p.Trp221Cys
ENST00000696425.1:c.811G>C	ENSP00000512620.1:p.Val271Leu
ENST00000696426.1:c.811G>C	ENSP00000512621.1:p.Val271Leu
ENST00000696427.1:c.811G>C	ENSP00000512622.1:p.Val271Leu
ENST00000696428.1:c.*653G>C	ENSP00000512623.1:n.*653G>C
ENST00000696429.1:c.811G>C	ENSP00000512624.1:p.Val271Leu
ENST00000696430.1:c.811G>C	ENSP00000512625.1:p.Val271Leu
ENST00000393562.10:c.811G>C MANE Select	ENSP00000377192.3:p.Val271Leu
ENST00000369620.6:c.949G>C	ENSP00000358633.2:p.Val317Leu
ENST00000393562.6:c.901G>C	ENSP00000377192.2:p.Val301Leu
ENST00000393564.6:c.811G>C	ENSP00000377194.2:p.Val271Leu
ENST00000439227.5:c.814G>C	ENSP00000395599.1:p.Val272Leu
ENST00000440967.5:c.814G>C	ENSP00000400648.1:p.Val272Leu
ENST00000489497.1:n.200G>C
ENST00000621232.4:c.811G>C	ENSP00000483686.1:p.Val271Leu
NM_000402.4:c.901G>C	NP_000393.4:p.Val301Leu
NM_001042351.2:c.811G>C	NP_001035810.1:p.Val271Leu
XM_005274657.2:c.904G>C	XP_005274714.1:p.Val302Leu
XM_005274658.2:c.814G>C	XP_005274715.1:p.Val272Leu
XM_011531132.1:c.904G>C	XP_011529434.1:p.Val302Leu
NM_001360016.2:c.811G>C MANE Select	NP_001346945.1:p.Val271Leu
NM_001042351.3:c.811G>C	NP_001035810.1:p.Val271Leu